The DOI matches its Crossref record; 139 of the 153 references it cites were found in a registry or an index.
FMR1 and the fragile X syndrome: Human genome epidemiology review
Open accessAbstract
The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of the most common forms of inherited mental retardation. The cognitive, behavioral, and physical phenotype varies by sex, with males being more severely affected because of the X-linked inheritance of the mutation. The disorder-causing mutation is the amplification of a CGG repeat in the 5' untranslated region of FMR1 located at Xq27.3. The fragile X CGG repeat has four forms: common (6-40 repeats), intermediate (41-60 repeats), premutation (61-200 repeats), and full mutation (>200-230 repeats). Population-based studies suggest that the prevalence of the full mutation, the disorder-causing form of the repeat, ranges from 1/3,717 to 1/8,918 Caucasian males in the general population. The full mutation is also found in other racial/ethnic populations; however, few population-based studies exist for these populations. No population-based studies exist for the full mutation in a general female population. In contrast, several large, population-based studies exist for the premutation or carrier form of the disorder, with prevalence estimates ranging from 1/246 to 1/468 Caucasian females in the general population. For Caucasian males, the prevalence of the premutation is approximately 1/1,000. Like the full mutation, little information exists for the premutation in other populations. Although no effective cure or treatment exists for the fragile X syndrome, all persons affected with the syndrome are eligible for early intervention services. The relatively high prevalence of the premutation and full mutation genotypes coupled with technological advances in genetic testing make the fragile X syndrome amenable to screening. The timing as well as benefits and harms associated with the different screening strategies are the subject of current research and discussion.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“FXS is the most common inherited cause of intellectual disability, occurring in 1 in 4,000 males and 1 in 8,000 females [706]”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [706]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Statistical Methods for Rates and Proportions
Fleiss, J. L., Levin, B., & Paik, M. C. (2003) · Wiley Series in Probability and Statistics · doi:10.1002/0471445428 · Cited by 18,646
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080
Absence of expression of the FMR-1 gene in fragile X syndrome
Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476
Devys, D., Lutz, Y., Rouyer, N., Bellocq, J., & Mandel, J. (1993) · Nature Genetics · doi:10.1038/ng0893-335 · Cited by 781
Tassone, F., Hagerman, R. J., Taylor, A. K., Gane, L. W., Godfrey, T. E., & Hagerman, P. J. (2000) · The American Journal of Human Genetics · doi:10.1086/302720 · Cited by 779
DNA methylation represses FMR-1 transcription in fragile X syndrome
Sutcliffe, J. S., Nelson, D. L., Zhang, F., Pieretti, M., Caskey, C. T., Saxe, D., & Warren, S. T. (1992) · Human Molecular Genetics · doi:10.1093/hmg/1.6.397 · Cited by 680
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein.
Siomi, H., Siomi, M. C., Nussbaum, R. L., & Dreyfuss, G. (1993) · Cell · doi:10.1016/0092-8674(93)90420-u · Cited by 641
Evidence that fragile X mental retardation protein is a negative regulator of translation
Laggerbauer, B. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.4.329 · Cited by 571
Feng, Y., Gutekunst, C.-A., Eberhart, D. E., Yi, H., Warren, S. T., & Hersch, S. M. (1997) · The Journal of Neuroscience · doi:10.1523/jneurosci.17-05-01539.1997 · Cited by 532
Research works printed but not linked: 3
- Hagerman, 1996, Physical and behavioral phenotype, Fragile X syndrome: diagnosis, treatment, and research, 3
- Howard-Peebles, 1995, Fragile X screening in pediatric and obstetrical patients, Dev Brain Dysfunct, 8, 408
- Holden, 1995, Distribution and frequency of FMR1 CGG repeat numbers in the general population, Dev Brain Dysfunct, 8, 405
Cited by
Sorted by citations
DNA methylation and human disease
Robertson, K. D. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1655 · Cited by 2,864
Chromosome Abnormalities and Genetic Counseling
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.001.0001 · Cited by 858
Practice parameter: Evaluation of the child with global developmental delay [RETIRED]
Shevell, M. I., Ashwal, S., Donley, D., Flint, J., Gingold, M. K., Hirtz, D., Majnemer, A., Noetzel, M. J., & Sheth, R. D. (2003) · Neurology · doi:10.1212/01.wnl.0000031431.81555.16 · Cited by 816
Garber, K. B., Visootsak, J., & Warren, S. T. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.61 · Cited by 491
Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA
Coffee, B., Keith, K., Albizua, I., Malone, T., Mowrey, J., Sherman, S. L., & Warren, S. T. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.007 · Cited by 436
“).(14) The largest of these studies identified 20 males with FXS among 3738 boys in special education classes in the United Kingdom, yielding a general population prevalence of 1 in 5530.”
BackgroundSelf-citationExpansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles
Nolin, S. L., Brown, W. T., Glicksman, A., Houck, Jr., Gargano, A. D., Sullivan, A., Biancalana, V., Bröndum-Nielsen, K., Hjalgrim, H., Holinski-Feder, E., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/367713 · Cited by 421
“The prevalence of full-mutation males in the white population is ∼1/4,000 (Murray et al. 1996; Turner et al. 1996; Crawford et al. 2001).”
BackgroundSelf-citationUrbach, A., Bar‐Nur, O., Daley, G. Q., & Benvenisty, N. (2010) · Cell stem cell · doi:10.1016/j.stem.2010.04.005 · Cited by 421
“Fragile X (FX) syndrome is the most common form of inherited mental retardation (Crawford et al., 2001; Rousseau et al., 1992).”
BackgroundBiological Motion Processing as a Hallmark of Social Cognition
Pavlova, M. A. (2011) · Cerebral Cortex · doi:10.1093/cercor/bhr156 · Cited by 407
“FXS or Martin-Bell syndrome is a rare genetic condition (1:4000 in males and 1:8000 in females, Crawford et al. 2001) that is associated with the expansion of a single trinucleotide gene sequence (CGG) on the X chromosome and yields a failure to express the FMR1 protein, which is required for…”
BackgroundInfluentialPeople with intellectual disability: What do we know about adulthood and life expectancy?
Coppus, A. M. W. (2013) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.1123 · Cited by 378
“Fragile X Syndrome Fragile X syndrome (FXS) is the most common identifiable inherited cause of intellectual disability and of autism, worldwide, with a prevalence in the general population of approximately 1/4000 males and 1/8,000 females [Turner et al., 1996; Crawford et al., 2001; Coffee et al., 2009].”
BackgroundTassone, F., Pan, R., Amiri, K. M. A., Taylor, A. K., & Hagerman, P. J. (2007) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2008.070073 · Cited by 350
Sheridan, S. D., Theriault, K. M., Reis, S. A., Zhou, F., Madison, J. M., Daheron, L. M., Loring, J. F., & Haggarty, S. J. (2011) · PLoS ONE · doi:10.1371/journal.pone.0026203 · Cited by 313
“Clinical manifestations of the syndrome include cognitive abnormalities ranging from mild learning impairment to severe mental retardation which often progressively increases with age [3,4,5,6].”
BackgroundDichter, G. S., Damiano, C. A., & Allen, J. A. (2012) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-4-19 · Cited by 299
“FXS is the most common inherited cause of intellectual disability, occurring in 1 in 4,000 males and 1 in 8,000 females [706], and is caused by a mutation of the FMR1 gene on the long arm of the X chromosome(locus Xq27.”
BackgroundEiges, R., Urbach, A., Malcov, M., Frumkin, T., Schwartz, T., Amit, A., Yaron, Y., Eden, A., Yanuka, O., Benvenisty, N., et al. (2007) · Cell stem cell · doi:10.1016/j.stem.2007.09.001 · Cited by 287
Fragile X syndrome: Diagnostic and carrier testing
Sherman, S. L., Pletcher, B. A., & Driscoll, D. A. (2005) · Genetics in Medicine · doi:10.1097/01.gim.0000182468.22666.dd · Cited by 283
“…Approximately 1/4000 males have fragile X syndrome and, by inference, about 1/8000 females have significant features of the syndrome (for review, see Crawford et al. (2001)).6 Premutation alleles are defined as long, unmethylated repeat tracks that are unstably transmitted from parent to child.”
BackgroundSelf-citationUsdin, K. (2008) · Genome Research · doi:10.1101/gr.070409.107 · Cited by 268
“However, population studies in Caucasians, the only population for which significant data exist, indicate that ∼1 in 246–468 females have 55–200 repeats and ∼1 in 3717–8918 males have 200 to >1000 repeats at this locus (Crawford et al. 2001).”
BackgroundAutism spectrum disorder in fragile X syndrome: cooccurring conditions and current treatment
Kaufmann, W. E., Kidd, S. A., Andrews, H. F., Budimirovic, D. B., Esler, A., Haas-Givler, B., Stackhouse, T., Riley, C., Peacock, G., Sherman, S. L., et al. (2017) · PEDIATRICS · doi:10.1542/peds.2016-1159f · Cited by 268
Fragile X syndrome: a review of associated medical problems
Kidd, S. A., Lachiewicz, A., Barbouth, D., Blitz, R. K., Delahunty, C., McBrien, D., Visootsak, J., & Berry-Kravis, E. (2014) · Pediatrics · doi:10.1542/peds.2013-4301 · Cited by 255
G‐quadruplex nucleic acids and human disease
Wu, Y., & Brosh, R. M. (2010) · FEBS Journal · doi:10.1111/j.1742-4658.2010.07760.x · Cited by 265
Mood and anxiety disorders in females with the FMR1 premutation
Roberts, J. E., Bailey, D. B., Mankowski, J., Ford, A. L., Sideris, J. H., Weisenfeld, L. A. H., Heath, T. M., & Golden, R. N. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30786 · Cited by 243
“Population studies suggest that approximately 1:246 Caucasian females carry the FMR1 premutation [Crawford et al., 2001].”
BackgroundAutism Spectrum Disorders and Epigenetics
Grafodatskaya, D., Chung, B., Szatmari, P., & Weksberg, R. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2010.05.005 · Cited by 235
“The repeat expansion leads to DNA hypermethylation and histone deacetylation of FMR1, resulting in loss of FMR1 expression.(27) In several cases with an expanded repeat allele, the absence of DNA methylation results in a normal clinical phenotype,(56,57) highlighting the importance of epigenetic modifications in produ…”
BackgroundGalvez, R., & Greenough, W. T. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30709 · Cited by 231
“The fragile X mental retardation syndrome (FXS) is the most common form of inherited mental retardation with an incidence of 1:4,000 in males and 1:8,000 in females [Crawford et al., 2001].”
BackgroundHessl, D. R., Tassone, F., Loesch, D. Z., Berry‐Kravis, E., Leehey, M. A., Gane, L. W., Barbato, I. T., Rice, C. D., Gould, E. L., Hall, D. A., et al. (2005) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30241 · Cited by 233
“Fragile X syndrome (FXS) is the most common inherited cause of mental retardation, occurring in approximately 1 per 4,000males and 1 in 8,000 females [Crawford et al., 2001].”
BackgroundExamination of reproductive aging milestones among women who carry the FMR1premutation
Allen, E. G., Sullivan, A. K., Marcus, M., Small, C. M., Dominguez, C. E., Epstein, M. P., Charen, K. H., He, W., Taylor, K. C., & Sherman, S. L. (2007) · Human Reproduction · doi:10.1093/humrep/dem148 · Cited by 227
“Approximately 1/4000 males have fragile X syndrome and by inference, 1/8000 females have the allele (for review, see Crawford et al., 2001).”
BackgroundSelf-citationChildhood autism and associated comorbidities
Zafeiriou, D., Ververi, A., & Vargìami, E. (2006) · Brain and Development · doi:10.1016/j.braindev.2006.09.003 · Cited by 230
“The prevalence of Frax is between 1/3500 and 1/9000 in males [36].”
BackgroundAbbeduto, L., Brady, N. C., & Kover, S. T. (2007) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20142 · Cited by 229
“Thus, the prevalence of affected individuals is 1 in 4,000 males and 1 in 8,000 females (Crawford et al., 2001).”
BackgroundLukusa-Tshilobo, P., & Fryns, J. P. (2007) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2007.10.005 · Cited by 207
“Females are usually less severely affected than males, presumably because of X-inactivation [103].”
BackgroundFernandez-Carvajal, I., Walichiewicz, P., Xiaosen, X., Pan, R., Hagerman, P. J., & Tassone, F. (2009) · The Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2009.080173 · Cited by 204
Abnormal structure or function of the amygdala is a common component of neurodevelopmental disorders
Schumann, C. M., Bauman, M. D., & Amaral, D. G. (2011) · Neuropsychologia · doi:10.1016/j.neuropsychologia.2010.09.028 · Cited by 178
Prevalence of CGG expansions of the FMR1 gene in a US population‐based sample
Seltzer, M. M., Baker, M. W., Hong, J., Maenner, M. J., Greenberg, J. S., & Mandel, D. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32065 · Cited by 191
“…are not firmly established, with some clinical and prevalence studies defining the lower bound at 35 CGG repeats [Rousseau et al., 1995; Bretherick et al., 2005; Curlis et al., 2005] and others defining the upper bound at 60 repeats [Crawford et al., 2001;Curlis et al., 2005;Mitchell et al., 2005].”
BackgroundTranslation-relevant EEG phenotypes in a mouse model of Fragile X Syndrome.
Lovelace, J. W., Ethell, I. M., Binder, D. K., & Razak, K. A. (2018) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.03.012 · Cited by 154
Behavioral phenotypes of genetic mouse models of autism
Kazdoba, T. M., Leach, P. T., & Crawley, J. N. (2015) · Genes Brain & Behavior · doi:10.1111/gbb.12256 · Cited by 187
“…a hypermethylated CGG repeat expansion in the FMR1 gene that leads to a drastic reduction in its protein product, FMRP. FMRP is an RNA binding protein that has been implicated in regulating protein expression (Bagni & Greenough 2005; Chen & Joseph 2015; Crawford et al. 2001; Kazdoba et al. 2014).”
BackgroundPark, C.-Y., Halevy, T., Lee, D. R., Sung, J. J., Lee, J. S., Yanuka, O., Benvenisty, N., & Kim, D.-W. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.08.084 · Cited by 178
“…(FXS) is the most common inherited form of intellectual disability with an incidence in males of one in 3,600, and it is caused by the silencing of the fragile X mental retardation 1 (FMR1) gene located on chromosome X (Crawford et al., 2001; O’Donnell and Warren, 2002; Penagarikano et al., 2007).”
BackgroundWen, T. H., Afroz, S., Reinhard, S. M., Palacios, A. R., Tapia, K., Binder, D. K., Razak, K. A., & Ethell, I. M. (2018) · Cerebral Cortex · doi:10.1093/cercor/bhx258 · Cited by 165
ADHD symptoms in children with FXS
Sullivan, K., Hatton, D., Hammer, J., Sideris, J., Hooper, S., Ornstein, P., & Bailey, D. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31388 · Cited by 174
Monaghan, K. G., Lyon, E., & Spector, E. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.61 · Cited by 173
Comparison of Methods for Quantification of Global DNA Methylation in Human Cells and Tissues
Lisanti, S., Omar, W. A. W., Tomaszewski, B., Prins, S. D., Jacobs, G., Koppen, G., Mathers, J. C., & Langie, S. A. S. (2013) · PLoS ONE · doi:10.1371/journal.pone.0079044 · Cited by 168
“[7,8].”
Human induced pluripotent stem cells for modelling neurodevelopmental disorders
Ardhanareeswaran, K., Mariani, J., Coppola, G., Abyzov, A. S., & Vaccarino, F. M. (2017) · Nature Reviews Neurology · doi:10.1038/nrneurol.2017.45 · Cited by 162
Genome Editing in Induced Pluripotent Stem Cells using CRISPR/Cas9
Jehuda, R. B., Shemer, Y., & Binah, O. (2018) · Stem Cell Reviews and Reports · doi:10.1007/s12015-018-9811-3 · Cited by 171
“Fragile X mental retardation 1 (FMR1) gene is located on chromosome X, and its silencing causes the most common inherited intellectual disability, fragile X syndrome (FXS) [45].”
BackgroundDiscourse Skills of Boys With Fragile X Syndrome in Comparison to Boys With Down Syndrome
Roberts, J. E., Martin, G. E., Moskowitz, L. J., Harris, A., Foreman, J., & Nelson, L. (2007) · Journal of Speech Language and Hearing Research · doi:10.1044/1092-4388(2007/033 · Cited by 150
Finestack, L. H., & Abbeduto, L. (2010) · Journal of Speech Language and Hearing Research · doi:10.1044/1092-4388(2010/09-0125 · Cited by 147
Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency
Streuli, I., Fraisse, T., Ibéchéole, V., Moix, I., Morris, M. A., & de Ziegler, D. (2008) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.07.007 · Cited by 139
Syntactic Complexity During Conversation of Boys With Fragile X Syndrome and Down Syndrome
Price, J. R., Roberts, J. E., Hennon, E. A., Berni, M. C., Anderson, K. L., & Sideris, J. H. (2008) · Journal of Speech Language and Hearing Research · doi:10.1044/1092-4388(2008/001 · Cited by 135
Sensory Processing Phenotypes in Fragile X Syndrome
Rais, M., Binder, D. K., Razak, K. A., & Ethell, I. M. (2018) · ASN NEURO · doi:10.1177/1759091418801092 · Cited by 143
“Fragile X syndrome (FXS) is the most prevalent cause of inherited intellectual disability and is a leading genetic cause of autism (Crawford et al., 2001).”
BackgroundBardoni, B., & Mandel, J. (2002) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(02)00300-3 · Cited by 129
Epigenetics of Autism Spectrum Disorder
Siu, M. T., & Weksberg, R. (2017) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-319-53889-1_4 · Cited by 121
Gleicher, N., Weghofer, A., & Barad, D. H. (2008) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.01.098 · Cited by 126
Fragile X AGG analysis provides new risk predictions for 45–69 repeat alleles
Nolin, S. L., Sah, S., Glicksman, A., Sherman, S. L., Allen, E. G., Berry‐Kravis, E., Tassone, F., Yrigollen, C. M., Cronister, A., Jodah, M., et al. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35833 · Cited by 129
“The fragile X syndrome (FXS, OMIM 300624), a common form of X-linked intellectual and developmental disability, occurs in approximately 1/4,000 males and 1/8,000 females [Crawford et al., 2001].”
BackgroundSelf-citationLanguage Development in Individuals With Fragile X Syndrome
Finestack, L. H., Richmond, E. K., & Abbeduto, L. (2009) · Topics in Language Disorders · doi:10.1097/tld.0b013e3181a72016 · Cited by 124
Social/economic costs and health-related quality of life in patients with rare diseases in Europe
López‐Bastida, J., Oliva, J., Linertová, R., & Serrano-Aguilar, P. G. (2016) · The European Journal of Health Economics · doi:10.1007/s10198-016-0780-7 · Cited by 122
“This disease affects males more often, and more severely, than females, with an estimated incidence of 1 in 5000 males and 1 in 9000 females [33].”
BackgroundAbsence of metabotropic glutamate receptor-mediated plasticity in the neocortex of fragile X mice
Wilson, B. M., & Cox, C. L. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0610875104 · Cited by 121
A study of the distributional characteristics of FMR1 transcript levels in 238 individuals
He, W., Yadav-Shah, M., Sherman, S. L., & Allen, E. G. (2004) · Human Genetics · doi:10.1007/s00439-004-1086-x · Cited by 120
Self-citationGregory, K. J., Dong, E. N., Meiler, J., & Conn, P. J. (2010) · Neuropharmacology · doi:10.1016/j.neuropharm.2010.07.007 · Cited by 122
“Fragile X Syndrome (FXS) is the leading cause of autism and the most common form of inherited mental retardation (Crawford et al., 2001; Garber et al., 2008).”
BackgroundMiano, S., Bruni, O., Elia, M., Scifo, L., Smerieri, A., Trovato, A., Verrillo, E., Terzano, M. G., & Ferri, R. (2008) · Clinical Neurophysiology · doi:10.1016/j.clinph.2008.03.004 · Cited by 115
“6-1/4000 live births for fraX (Crawford et al., 2001).”
Hirst, M., & Marra, M. A. (2008) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2008.09.011 · Cited by 120
Mandel, J., & Chelly, J. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201247 · Cited by 117
“In this study, 12 of 45 affected male sibpairs were diagnosed with fragile X, which would correspond to an incidence of fragile X of about one in 6000 in males, which fits rather well with current estimates of one in four to 6000 males in various populations”
BackgroundArginines of the RGG box regulate FMRP association with polyribosomes and mRNA
Blackwell, E., Zhang, X., & Ceman, S. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq007 · Cited by 117
“Fragile X syndrome (FXS) is the most common form of heritable mental retardation, affecting 1/4000 males and 1/8000 females and is due to loss of expression of the fragile X mental retardation protein FMRP (1).”
BackgroundLanguage comprehension in boys with fragile X syndrome and boys with Down syndrome
Price, J. R., Roberts, J. E., Vandergrift, N., & Martin, G. E. (2007) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2006.00881.x · Cited by 116
Roberts, J. E., Price, J. R., Barnes, E., Nelson, L. M., Burchinal, M., Hennon, E. A., Moskowitz, L. J., Edwards, A., Malkin, C., Anderson, K. L., et al. (2007) · American Journal on Mental Retardation · doi:10.1352/0895-8017(2007)112[177:rvevas]2.0.co;2 · Cited by 115
Induced pluripotent stem cells: a new revolution for clinical neurology?
Mattis, V. B., & Svendsen, C. N. (2011) · The Lancet Neurology · doi:10.1016/s1474-4422(11)70022-9 · Cited by 115
Dong, Z., Chen, W., Chen, C., Wang, H., Cui, W., Tan, Z., Robinson, H., Gao, N., Luo, B., Zhang, L., et al. (2020) · Neuron · doi:10.1016/j.neuron.2019.10.035 · Cited by 109
A Comparison of Phonological Skills of Boys With Fragile X Syndrome and Down Syndrome
Roberts, J. E., Long, S. H., Malkin, C., Barnes, E., Skinner, M. L., Hennon, E. A., & Anderson, K. L. (2005) · Journal of Speech Language and Hearing Research · doi:10.1044/1092-4388(2005/067 · Cited by 115
Behavioral Phenotype of Fragile X Syndrome in Adolescence and Adulthood
DaWalt, L. S., Barker, E. T., Seltzer, M. M., Abbeduto, L., & Greenberg, J. S. (2012) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-117.1.1 · Cited by 113
Bartholomay, K. L., Lee, C. H.-Y., Bruno, J. L., Lightbody, A. A., & Reiss, A. L. (2019) · Brain Sciences · doi:10.3390/brainsci9010011 · Cited by 111
X linked mental retardation: a clinical guide
Raymond, F. L. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.033043 · Cited by 117
Anatomical phenotyping in a mouse model of fragile X syndrome with magnetic resonance imaging
Ellegood, J., Pacey, L. K. K., Hampson, D. R., Lerch, J. P., & Henkelman, R. M. (2010) · NeuroImage · doi:10.1016/j.neuroimage.2010.03.038 · Cited by 110
“The most common inherited form of mental retardation, Fragile X Syndrome (FXS), affects approximately 1 in 4000 males and 1 in 8000 females (Crawford et al., 2001; Visootsak et al., 2005).”
BackgroundPractice parameter: Evaluation of the child with global developmental delay
Whelen, M. A. (2003) · Neurology · doi:10.1212/wnl.61.9.1315 · Cited by 110
Oddi, D., Subashi, E., Middei, S., Bellocchio, L., Lemaire, V., Guzmán, M., Crusio, W. E., D'Amato, F. R., & Pietropaolo, S. (2014) · Neuropsychopharmacology · doi:10.1038/npp.2014.291 · Cited by 107
Heussler, H., Cohen, J., Silove, N., Tich, N., Bonn-Miller, M. O., Du, W., O’Neill, C., & Sebree, T. (2019) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-019-9277-x · Cited by 106
Kamm, C., Healy, D. G., Quinn, N. P., Wüllner, U., Möller, J. C., Schöls, L. J., Geser, F., Bürk, K., Børglum, A. D., Pellecchia, M. T., et al. (2005) · Brain · doi:10.1093/brain/awh535 · Cited by 106
“The observed frequencies for grey-zone and premutation alleles (Table 1) in our control population were similar to those observed in previous studies and other populations (Crawford et al., 2001).”
ResultBrady, N. C., Skinner, D., Roberts, J. E., & Hennon, E. A. (2006) · American Journal of Speech-Language Pathology · doi:10.1044/1058-0360(2006/033 · Cited by 105
Hanson, J. E., & Madison, D. V. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.4717-06.2007 · Cited by 103
“Fragile X syndrome (FXS) is one of the most common inherited forms of mental retardation (Crawford et al., 2001).”
BackgroundBarnes, E., Roberts, J. E., Long, S. H., Martin, G. E., Berni, M. C., Mandulak, K. C., & Sideris, J. H. (2009) · Journal of Speech Language and Hearing Research · doi:10.1044/1092-4388(2009/08-0001 · Cited by 105
The Fragile X Family of Disorders: A Model for Autism and Targeted Treatments
Hagerman, R. J., Rivera, S. M., & Hagerman, P. J. (2008) · Current Pediatric Reviews · doi:10.2174/157339608783565770 · Cited by 101
“The prevalence of FXS with mental retardation is approximately 1 per 3,600 males in the general population; however, females with FXS usually present with learning disabilities [36-39].”
BackgroundHall, S. S., Lightbody, A. A., Huffman, L. C., Lazzeroni, L. C., & Reiss, A. L. (2009) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/chi.0b013e318195bd15 · Cited by 100
Exploring the Adult Life of Men and Women With Fragile X Syndrome: Results From a National Survey
Hartley, S. L., Seltzer, M. M., Raspa, M., Olmsted, M. G., Bishop, E. E., & Bailey, D. B. (2011) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-116.1.16 · Cited by 100
McDuffie, A. S., Abbeduto, L., Lewis, P. F., Kover, S. T., Kim, J.-S., Weber, A., & Brown, W. T. (2010) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-115.4.307 · Cited by 101
“In general, prevalence rates have been reported as 1 in 4000 males and 1 in 8000 females (Crawford et al., 2001); however, recent studies have yielded rates closer to 1 in 2500 (Fernandez-Carvajal., Walichiewicz, Xiaosen, Pan, Hagerman, & Tassone, 2009; Hagerman, 2008).”
ResultThe Impact of Genetic Research on our Understanding of Normal Cognitive Ageing: 1995 to 2009
Payton, A. (2009) · Neuropsychology Review · doi:10.1007/s11065-009-9116-z · Cited by 95
“3) contains a CGG repeat in the 5′ untranslated region which can silence the gene and cause mental retardation if the number of repeats exceeds 200 (Crawford et al. 2001).”
BackgroundFragile X Syndrome: The FMR1 CGG Repeat Distribution Among World Populations
Peprah, E. K. (2011) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2011.00694.x · Cited by 96
“Within western European populations, significant differences in allelic and haplotypic distributions exist between normal chromosomes found in the general population and chromosomes that harbour the full mutation which causes FXS (Rousseau et al., 1995; Crawford et al., 2001).”
BackgroundResultInfluentialTherapeutic Potential of Metabotropic Glutamate Receptor Modulators
Hovelsø, N., Sotty, F., Montezinho, L. P., Pinheiro, P. S., Herrik, K. F., & Mørk, A. (2012) · Current Neuropharmacology · doi:10.2174/157015912799362805 · Cited by 100
A systematic review of population screening for fragile X syndrome
Hill, M. K., Archibald, A. D., Cohen, J., & Metcalfe, S. A. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181e38fb6 · Cited by 95
Stride-level analysis of mouse open field behavior using deep-learning-based pose estimation
Sheppard, K., Gardin, J., Sabnis, G. S., Peer, A., Darrell, M., Deats, S., Geuther, B. Q., Lutz, C. M., & Kumar, V. (2022) · Cell Reports · doi:10.1016/j.celrep.2021.110231 · Cited by 109
Fragile X carrier screening and FMR1 allele distribution in the Japanese population
Otsuka, S., Sakamoto, Y., Siomi, H., Itakura, M., Yamamoto, K., Matumoto, H., Sasaki, T., Kato, N., & Nanba, E. (2009) · Brain and Development · doi:10.1016/j.braindev.2008.12.015 · Cited by 95
“Fragile X syndrome (FXS) has been reported to be the common cause of inherited mental retardation [1].”
BackgroundEvidence of a Distinct Behavioral Phenotype in Young Boys With Fragile X Syndrome and Autism
Wolff, J. J., Bodfish, J. W., Hazlett, H. C., Lightbody, A. A., Reiss, A. L., & Piven, J. (2012) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2012.09.001 · Cited by 96
Longitudinal Profiles of Adaptive Behavior in Fragile X Syndrome
Klaiman, C., Quintin, E., Jo, B., Lightbody, A. A., Hazlett, H. C., Piven, J., Hall, S. S., & Reiss, A. L. (2014) · PEDIATRICS · doi:10.1542/peds.2013-3990 · Cited by 94
Qin, M., Entezam, A., Usdin, K., Huang, T., Liu, Z., Hoffman, G. E., & Smith, C. B. (2011) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.01.008 · Cited by 91
Potential therapeutic interventions for fragile X syndrome
Levenga, J., de Vrij, F. M. S., Oostra, B. A., & Willemsen, R. (2010) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2010.08.005 · Cited by 90
Roy, S., Watkins, N. W., & Heck, D. H. (2012) · PLoS ONE · doi:10.1371/journal.pone.0044816 · Cited by 92
“Due to the mosaicism of the x-linked mutation, symptoms are typically milder in females but about 1/8000 females have significant features of the syndrome [1].”
BackgroundThe genetics of mental retardation
Raymond, F. L., & Tarpey, P. S. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl189 · Cited by 90
Multielectrode array analysis of EEG biomarkers in a mouse model of Fragile X Syndrome
Jonak, C. R., Lovelace, J. W., Ethell, I. M., Razak, K. A., & Binder, D. K. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104794 · Cited by 87
Gene, brain, and behavior relationships in fragile X syndrome: Evidence from neuroimaging studies
Lightbody, A. A., & Reiss, A. L. (2009) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.77 · Cited by 85
“Keywords fragile X syndrome; MRI; FMR1; behavior and intellectual disability Fragile X syndrome (FraX) remains the most common inherited cause of intellectual disability, occurring in ~1 in 4,000 males and 1 in 8,000 females [Crawford et al., 2001].”
BackgroundBar‐Nur, O., Caspi, I., & Benvenisty, N. (2012) · Journal of Molecular Cell Biology · doi:10.1093/jmcb/mjs007 · Cited by 86
“Fragile-X (FX) syndrome belongs to the autism spectrum disorders, and is the most common cause of inherited mental retardation with the prevalence of 1/3600 (Crawford et al., 2001).”
BackgroundLai, J., Sobala-Drozdowski, M., Zhou, L., Doering, L. C., Faure, P. A., & Foster, J. A. (2013) · Behavioural Brain Research · doi:10.1016/j.bbr.2013.10.049 · Cited by 82
“[1] Crawford DC, Acuna JM, Sherman SL.”
BackgroundMethodInfluentialDiscriminating Down Syndrome and Fragile X Syndrome based on language ability
Finestack, L. H., Sterling, A. M., & Abbeduto, L. (2012) · Journal of Child Language · doi:10.1017/s0305000912000207 · Cited by 84
Farzin, F., Rivera, S. M., & Hessl, D. R. (2009) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-009-0744-1 · Cited by 83
“Fragile X syndrome (FXS) is the most common cause of inherited mental impairment (Crawford et al. 2001) and, to date, the most common known genetic cause of autism (Cohen et al. 2005).”
Sinclair, D., Featherstone, R. E., Naschek, M. J., Nam, A. J., Du, A., Wright, S., Pance, K., Melnychenko, O., Weger, R., Akuzawa, S., et al. (2017) · eNeuro · doi:10.1523/eneuro.0380-16.2017 · Cited by 88
“This is consistent with the increased severity of FXS in human males (Crawford et al. 2001).”
Lovelace, J. W., Rais, M., Palacios, A. R., Shuai, X. S., Bishay, S., Popa, O., Pirbhoy, P. S., Binder, D. K., Nelson, D. L., Ethell, I. M., et al. (2019) · Cerebral Cortex · doi:10.1093/cercor/bhz141 · Cited by 82
“Sensory processing deficits commonly co-occur with ASD.”
BackgroundInfluentialFragile X mental retardation protein interactions with the microtubule associated protein 1B RNA
Menon, L., Mader, S. A., & Mihailescu, M. (2008) · RNA · doi:10.1261/rna.1100708 · Cited by 82
“Keywords: FMRP; fragile X syndrome; G quadruplex; MAP1B RNA; RGG box The lack of fragile X mental retardation protein (FMRP) results in the fragile X syndrome, the most prevalent inherited mental disorder (Crawford et al. 2001).”
BackgroundMathematics learning disability in girls with Turner syndrome or fragile X syndrome
Murphy, M. M., Mazzocco, M. M. M., Gerner, G. J., & Henry, A. E. (2006) · Brain and Cognition · doi:10.1016/j.bandc.2005.12.014 · Cited by 82
Peprah, E. K., Xu, H., Ayele, F. T., & Royal, C. D. M. (2014) · Public Health Genomics · doi:10.1159/000367962 · Cited by 82
Kogan, C. S., Boutet, I., Cornish, K. M., Graham, G. E., Berry‐Kravis, E., Drouin, A., & Milgram, N. W. (2008) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2008.01135.x · Cited by 79
Metadata
- Authors
- Crawford, D. C., Acuña, J. M., & Sherman, S. L.
- Affiliations
- Centers for Disease Control and Prevention (US)
- Emory University (US)
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2001-09
- Volume
- 3
- Issue
- 5
- Pages
- 359-371
- ISSN
- 1098-3600 (ISSN-L)
- PMC
- PMC4493892
- OpenAlex
- W2073347350
- Cited by
- 711
- References
- 153
- Citations by year
- 2026: 12 · 2025: 16 · 2024: 17 · 2023: 14 · 2022: 35 · 2021: 24 · 2020: 46 · 2019: 37 · 2018: 32 · 2017: 39 · 2016: 29 · 2015: 28 · 2014: 46 · 2013: 35 · 2012: 38
- FWCI
- 0.95
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (NIH-R01, R01‐grant)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01 HD 29909, R01HD029909)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- fragile X syndrome, FMR1 gene, CGG repeat expansion, premutation, full mutation, X-linked dominant inheritance, prevalence, carrier frequency, intellectual disability, sex differences in phenotype, genetic testing, screening method, early intervention
- MeSH terms
- Female, Fragile X Syndrome, Gene Frequency, Genetic Testing, Heterozygote, Humans, Male, Mutation, Nerve Tissue Proteins, Genome, Human, RNA-Binding Proteins, Trinucleotide Repeats, White People, Fragile X Mental Retardation Protein, Fragile X Messenger Ribonucleoprotein 1
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
