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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.
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“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]
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“Fragile X syndrome (FXS) affects approximately 1 in every 4,000 males and 1 in every 8,000 females (Crawford et al., 2001).”
BackgroundMenon, L., & Mihailescu, M. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm581 · Cited by 75
“The standard enthalpy, entropy and free energy of Gquartet formation in S3F-M2RNA,whichwere obtained by fitting the 38–678C hypochromic transition to Equation (1) (Materials and Methods section), are summarized in Table 1.”
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Roberts, J. E., Mankowski, J., Sideris, J. H., Goldman, B. D., Hatton, D. D., Mirrett, P. L., Baranek, G. T., Reznick, J. S., Long, A. C. J., & Bailey, D. B. (2008) · Journal of Pediatric Psychology · doi:10.1093/jpepsy/jsn129 · Cited by 81
Polysomnographic phenotypes in developmental disabilities
Harvey, M. T., & Kennedy, C. H. (2002) · International Journal of Developmental Neuroscience · doi:10.1016/s0736-5748(02)00008-4 · Cited by 77
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Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort
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Screening for Fragile X Syndrome: Parent attitudes and perspectives
Skinner, D., Sparkman, K. L., & Bailey, D. B. (2003) · Genetics in Medicine · doi:10.1097/01.gim.0000086480.69309.1e · Cited by 74
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“Fragile X syndrome (FXS) is the most common form of inherited mental retardation in males, with an incidence estimated at 1 in 4,000–9,000 ( Crawford, Acuna, & Sherman, 2001 ).”
Finucane, B. M., Abrams, L. J., Cronister, A., Archibald, A. D., Bennett, R. L., & McConkie‐Rosell, A. (2012) · Journal of Genetic Counseling · doi:10.1007/s10897-012-9524-8 · Cited by 77
“Population studies suggest a prevalence of FXS in 1 in 4,000 males and 1 in 8,000 females (Crawford et al. 2001).”
BackgroundMan, L., Lekovich, J. P., Rosenwaks, Z., & Gerhardt, J. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00290 · Cited by 74
“On the other hand, Crawford states that most affected males do not reproduce, presumably due to the severity of intellectual disability (Crawford et al., 2001).”
BackgroundESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues
Dondorp, W., de Wert, G. M. W. R., Pennings, G., Shenfield, F., Devroey, P., Tarlatzis, B. C., Barri, P. N., Diedrich, K., Eichenlaub-Ritter, U., Tüttelmann, F., et al. (2014) · Human Reproduction · doi:10.1093/humrep/deu111 · Cited by 72
“FXS is the most common form of inherited mental retardation in males (affecting 1:4000 males in the general Caucasian population) (Crawford et al., 2001).”
BackgroundCharacterising repetitive behaviours in young boys with fragile X syndrome
Oakes, A., Thurman, A. J., McDuffie, A. S., Bullard, L., Hagerman, R. J., & Abbeduto, L. (2015) · Journal of Intellectual Disability Research · doi:10.1111/jir.12234 · Cited by 77
Finestack, L. H., Palmer, M., & Abbeduto, L. (2012) · American Journal of Speech-Language Pathology · doi:10.1044/1058-0360(2011/10-0095 · Cited by 74
Hunter, J. E., Allen, E. G., Abramowitz, A. J., Rusin, M. J., Leslie, M., Novak, G., Hamilton, D., Shubeck, L., Charen, K. H., & Sherman, S. L. (2008) · Behavior Genetics · doi:10.1007/s10519-008-9214-3 · Cited by 73
“About 1 in 250 females and 1 in 800 males carry one of these high repeat alleles (Crawford et al. 2001).”
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“Approximately 1 in 4,000 women carries an FMR1 full mutation allele and 1 in 250 carries a premutation [Crawford et al., 2001].”
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“Fragile X syndrome (FXS) has been identified as the most common heritable form of mental retardation affecting nearly 1 in 4,000 males and 1 in 9,000 females [Turner et al., 1996; Crawford et al., 2001].”
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Farzin, F., Huang, F. S., Hervey, C., Berry‐Kravis, E., & Hessl, D. R. (2011) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-011-1176-2 · Cited by 72
“Fragile X syndrome (FXS) is the most common genetic cause of intellectual impairment (Crawford et al. 2001) and the most common monogenetic cause of autism (Cohen et al. 2005).”
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Raspa, M., Bailey, D. B., Bishop, E. E., Holiday, D. B., & Olmsted, M. G. (2010) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-115.6.482 · Cited by 68
Matrix Metalloproteinases and Minocycline: Therapeutic Avenues for Fragile X Syndrome
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“Fragile X syndrome (FXS), the most common heritable cause of intellectual disability and autism spectrum disorders [1], has a prevalence of roughly 1 in 4000 males and 1 in 6000 females [2, 3].”
BackgroundGlycogen Synthase Kinase-3: A Promising Therapeutic Target for Fragile X Syndrome
Mines, M. A., & Jope, R. S. (2011) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2011.00035 · Cited by 68
“Since FXS is an X-linked developmental disorder, its incidence is higher in males than females, affecting ∼1 in 4000 males and ∼1 in 7000 females (Crawford et al., 2001).”
Sex and gender affect the social brain: Beyond simplicity
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“Among live births, males have higher Down syndrome rates than females, with an overall sex ratio of 1.28 (Bishop et al., 1997) and higher fragile X syndrome rates with a ratio of 2 (Crawford et al., 2001).”
BackgroundInfluentialPirbhoy, P. S., Rais, M., Lovelace, J. W., Woodard, W., Razak, K. A., Binder, D. K., & Ethell, I. M. (2020) · Journal of Neurochemistry · doi:10.1111/jnc.15037 · Cited by 62
“…with previously reported benefits of minocycline treatment in humans with FXS (Schneider et al., 2013), Fmr1 KO mice (Bilousova et al., 2009; Dansie et al., 2013; Toledo, Wen, Binder, Ethell, & Razak, 2019), and the Drosophila FXS model (Siller & Broadie, 2011), and further suggest that…”
BackgroundModulation of the GABAergic pathway for the treatment of fragile X syndrome
Hagerman, R. J., Lozano, R., & Hare, E. B. (2014) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s42919 · Cited by 70
“The prevalence of the full mutation is approximately one in 5,000 males 12 and one in 8,000 females, 13 whereas the premutation is far more common, at one in 130–250 females and one in 250–810 males.”
BackgroundThe Human Genome Project Is Complete. How Do We Develop a Handle for the Pump?
Little, J. (2003) · American Journal of Epidemiology · doi:10.1093/aje/kwg048 · Cited by 66
Abbeduto, L., Thurman, A. J., McDuffie, A. S., Klusek, J., Feigles, R. T., Brown, W. T., Harvey, D. J., Adayev, T., LaFauci, G., Dobkins, C., et al. (2018) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-018-3796-2 · Cited by 75
Veloz, M. F. V., Buijsen, R. A. M., Willemsen, R., Cupido, A., Bosman, L. W. J., Koekkoek, S. K. E., Potters, J.-W., Oostra, B. A., & Zeeuw, C. I. D. (2012) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2011.00763.x · Cited by 70
“…28 December 2011 Fragile X syndrome (FXS) is the most common genetic form of mental impairment (WHO 1996), affecting approximately 1 in 4000 males (Crawford et al. 2002; de Vries et al. 1997; Patsalis et al. 1999; Youings et al. 2000) and 1 in 6000 females worldwide (Crawford et al. 2001).”
BackgroundMechanisms underlying auditory processing deficits in Fragile X syndrome
McCullagh, E. A., Rotschafer, S. E., Auerbach, B. D., Klug, A., Kaczmarek, L. K., Cramer, K. S., Kulesza, R. J., Razak, K. A., Lovelace, J. W., Lu, Y., et al. (2020) · The FASEB Journal · doi:10.1096/fj.201902435r · Cited by 66
Monogenic mouse models of social dysfunction: Implications for autism
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“FXS is the most common cause of inherited intellectual disability [21], affecting approximately 1 in 4000 males and 1 in 8000 females [22].”
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Bailey, D. B. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20002 · Cited by 64
“Although there is controversy over the true incidence rate, a recent review estimates that at least 1:4000 males are born with the full-mutation FXS and 1:270 women may be a carrier [Crawford et al., 2001].”
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Contrast detection in infants with fragile X syndrome
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Fragile X Syndrome: An Update and Review for the Primary Pediatrician
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“The prevalence of premutation alleles is 1 in 350 females, and the prevalence of intermediate alleles is about 6% of females [3].”
BackgroundMouse Genetic Models of Human Brain Disorders
Leung, C., & Jia, Z. (2016) · Frontiers in Genetics · doi:10.3389/fgene.2016.00040 · Cited by 63
“Children with ID often have IQ scores approximately two standard deviations below the population (Mandel and Chelly, 2004).”
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Diagnostic Approach to Macrocephaly in Children
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“Fragile X Syndrome Fragile X syndrome (OMIM# 300624, FXS) has been traditionally considered the most common genetic cause of ID and ASD in males with a prevalence ranging from 1/3,717 to 1/8,918 (97).”
BackgroundFMRP interacts with G-quadruplex structures in the 3’-UTR of its dendritic target Shank1 mRNA
Zhang, Y., Gaetano, C. M., Williams, K. R., Bassell, G. J., & Mihailescu, M. (2014) · RNA Biology · doi:10.1080/15476286.2014.996464 · Cited by 59
“Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability, affecting »1 in 4000 males and »1 in 8000 females.(1) The syndrome is caused by an unstable expansion of a cytosine-guanine-guanine (CGG) trinucleotide repeat that silences the fmr1 gene, resulting in the loss of expression of the…”
BackgroundCholesterol levels in Fragile X syndrome
Berry‐Kravis, E., Levin, R., Shah, H., Mathur, S., Darnell, J. C., & Ouyang, B. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36850 · Cited by 59
“Fragile X syndrome (FXS) is the most common known inherited cause of intellectual disability (ID) and the most common identifiable genetic cause of autism spectrum disorder (ASD), with a prevalence of about 1/4000 [Crawford et al., 2001].”
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X‐linked mental retardation: further lumping, splitting and emerging phenotypes
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High-throughput characterization of the role of non-B DNA motifs on promoter function
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“with a number of co-occurring problems, such as seizures, anxiety, and sleep disturbances,(13) and the paucity of efficacious therapeutic options, FXS represents an important public health problem.(6) The present article provides a brief review of recent research that doc-”
BackgroundCognitive aspects of Fragile X syndrome
Huddleston, L. B., Visootsak, J., & Sherman, S. L. (2014) · Wiley Interdisciplinary Reviews Cognitive Science · doi:10.1002/wcs.1296 · Cited by 56
“Given that the mutation is located on the X chromosome, males are typically affected to a greater degree with a prevalence of approximately 1 in 4000 as compared to 1 in 8000 in females[11-15].”
BackgroundSelf-citationIncidence of Fragile X in 5,000 Consecutive Newborn Males
Rife, M. F., Bádenas, C., Mallolas, J., Jiménez, L., Cervera, R., Maya, A. C. L., Glover, G., Rivera, F., & Milà, M. (2003) · Genetic Testing · doi:10.1089/109065703322783725 · Cited by 56
“This is close to the frequency reported for the African-American population (1 in 2,545) (Crawford et al ., 2001).”
Examination of the Effect of the Polymorphic CGG Repeat in the FMR1 Gene on Cognitive Performance
Allen, E. G., Sherman, S. L., Abramowitz, A. J., Leslie, M., Novak, G., Rusin, M. J., Scott, E., & Letz, R. (2005) · Behavior Genetics · doi:10.1007/s10519-005-2792-4 · Cited by 58
“The disorder occurs in approximately one in 4000 males and one in 8000 females (for review, see Crawford et al., 2001 ).”
BackgroundSelf-citationReproductive Health of Adolescent Girls Who Carry the FMR1 Premutation
De, J. J., Dominguez, C. E., & Sherman, S. L. (2008) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1429.029 · Cited by 53
“The fragile X mental retardation 1 (FMR1) premutation allele contains 55–199 CGG repeats in the 5′ untranslated region and is associated with two significant clinical phenotypes: (1) fragile X–associated primary ovarian insufficiency (FXPOI) and (2) fragile X-associated tremor/ataxia syndrome (FXTAS) (#300623), a neur…”
BackgroundInfluentialSelf-citationCorticosterone response to acute stress in a mouse model of Fragile X syndrome
Markham, J. A., Beckel-Mitchener, A. C., Estrada, C. M., & Greenough, W. T. (2006) · Psychoneuroendocrinology · doi:10.1016/j.psyneuen.2006.02.008 · Cited by 53
“Fragile X syndrome (FXS) is the most common inherited form of mental retardation, affecting as many as 1/4000 males and 1/8000 females, and is caused by the transcriptional silencing of a single gene (Fmr1) that codes for the Fragile X mental retardation protein (FMRP) (Crawford et al., 2001).”
BackgroundWalter, E., Mazaika, P. K., & Reiss, A. L. (2009) · Neuroscience · doi:10.1016/j.neuroscience.2009.04.033 · Cited by 55
Heine‐Suñer, D., Torres‐Juan, L., Morlá, M., Busquets, X., Barceló, F., Picó, G., Bonilla, L. S., Govea, N., Bernués, M., & Rosell, J. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20160 · Cited by 52
“Neuropsychological features have also been described to be more mild in females when compared to males with the full mutation [de Vries et al., 1996; Crawford et al., 2001; Warren and Sherman, 2001].”
BackgroundWomen's Attitudes Toward Testing for Fragile X Carrier Status: A Qualitative Analysis
Anido, A., Carlson, L. M., Taft, L. F., & Sherman, S. L. (2005) · Journal of Genetic Counseling · doi:10.1007/s10508-005-0001-4 · Cited by 52
Self-citationPrevalence and economic well-being of families raising multiple children with disabilities
Ghosh, S., & Parish, S. L. (2013) · Children and Youth Services Review · doi:10.1016/j.childyouth.2013.05.018 · Cited by 51
FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome
Sherman, S. L., Kidd, S. A., Riley, C. M., Berry‐Kravis, E., Andrews, H., Miller, R. M., Lincoln, S. A., Swanson, M., Kaufmann, W. E., & Brown, W. T. (2017) · PEDIATRICS · doi:10.1542/peds.2016-1159e · Cited by 51
Self-citationAbbeduto, L., Berry‐Kravis, E., Sterling, A. M., Sherman, S. L., Edgin, J. O., McDuffie, A. S., Hoffmann, A., Hamilton, D., Nelson, M. N., Aschkenasy, J. R., et al. (2020) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-020-09313-6 · Cited by 57
Self-citationPharmacology of Metabotropic Glutamate Receptor Allosteric Modulators
Gregory, K. J., Noetzel, M. J., & Niswender, C. M. (2013) · Progress in molecular biology and translational science · doi:10.1016/b978-0-12-394587-7.00002-6 · Cited by 54
Sullivan, K. M., Hatton, D. D., Hammer, J., Sideris, J. H., Hooper, S. R., Ornstein, P. A., & Bailey, D. B. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30504 · Cited by 56
“Full mutation FXS is the most common inherited cause of intellectual disability with an estimated prevalence of 1:4,000 in males and 1:8,000 in females [see Crawford et al., 2001 for review].”
BackgroundGarcía‐Alegría, E., Ibáñez, B., Minguez, M., Poch, M., Valiente, A., Sanz-Parra, A., Martínez-Bouzas, C., Beristain, E., & Tejada, M. (2007) · RNA · doi:10.1261/rna.206307 · Cited by 50
“Fragile X syndrome (FXS) is the most common form of inherited mental retardation, with an estimated incidence of 1 in 4000 males and 1 in 8000 females (for review, see Crawford et al. 2001).”
BackgroundClinical and molecular contributions to the understanding of X-linked mental retardation
Stevenson, R. E., & Schwartz, C. (2002) · Cytogenetic and Genome Research · doi:10.1159/000071603 · Cited by 50
“Diagnosis based on molecular studies of the FMR1 gene indicate the prevalence of fragile X syndrome to be about 1 in 4,000 males and about 1 in 8,000 females (Turner et al., 1996; Sherman, 1996; de Vries et al., 1997; Pembrey et al., 2001).”
BackgroundInfluentialCrawford, H., Moss, J. F., Groves, L., Dowlen, R., Nelson, L., Reid, D., & Oliver, C. (2019) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-019-04232-5 · Cited by 51
Molecular Analysis of Fragile X Syndrome
Basehore, M. J., & Friez, M. J. (2009) · Current Protocols in Human Genetics · doi:10.1002/0471142905.hg0905s63 · Cited by 49
“Concentrations of ethidium bromide should not be >0.25 μg/ml in the agarose gel because higher levels may alter the migration of fragments with large FMR1 CGG repeats, resulting in a very faint signal on the autoradiogram (Cummins, 1997).”
BackgroundInfluentialParents' Decisions to Screen Newborns forFMR1Gene Expansions in a Pilot Research Project
Skinner, D., Choudhury, S., Sideris, J. H., Guarda, S., Buansi, A., Roche, M. I., Powell, C. M., & Bailey, D. B. (2011) · PEDIATRICS · doi:10.1542/peds.2010-3078 · Cited by 48
Language dysfluencies in females with the FMR1 premutation
Sterling, A. M., Seltzer, M. M., Greenberg, J. S., Warren, S. F., & Brady, N. C. (2013) · Brain and Cognition · doi:10.1016/j.bandc.2013.02.009 · Cited by 47
Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review
Fink, D. A., Nelson, L. M., Pyeritz, R. E., Johnson, J., Sherman, S. L., Cohen, Y., & Elizur, S. E. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00529 · Cited by 47
“Fragile X syndrome (FXS; OMIM 300624) is a common form of X-linked intellectual and developmental disability (Crawford et al., 2001) with a prevalence of 1/4000 – 5000 in males and 1/6000 – 8000 in females (de Vries et al.”
BackgroundSelf-citationChoi, C. H., Schoenfeld, B. P., Bell, A. J., Hinchey, J., Rosenfelt, C., Gertner, M. J., Campbell, S. R., Emerson, D., Hinchey, P., Kollaros, M., et al. (2016) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2016.00136 · Cited by 46
“Fragile X syndrome is the most common monogenic cause of both intellectual disability and autism spectrum disorders (Turner et al., 1996; Crawford et al., 2002; Hagerman, 2008).”
BackgroundEffects of race/ethnicity on triple CGG counts in the FMR1 gene in infertile women and egg donors
Gleicher, N., Weghofer, A., & Barad, D. H. (2009) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2009.12.017 · Cited by 46
“This observation also complements previously reported observations that Caucasians, at a prevalence of approximately 1:246 (Crawford et al., 2001), probably demonstrate more premutation range”
BackgroundResultAn Investigation of Narrative Ability in Boys with Autism and Fragile X Syndrome
Hogan, A. L., Losh, M. C., Martin, G. E., & Mueffelmann, D. J. (2013) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-118.2.77 · Cited by 45
Newman, I., Leader, G., Chen, J. L., & Mannion, A. (2014) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2014.11.003 · Cited by 45
“Crawford, Acuña, and Sherman (2001) estimated that 1 in every 246 – 461 females are carriers of the pre-mutation, whilst Rousseau, Rouillard, Morel, Khandjian, and Morgan (1995) estimated this figure to be 1 in every 259 females tested.”
Functional analysis and treatment of problem behavior exhibited by children with fragile X syndrome
Kurtz, P. F., Chin, M. D., Robinson, A. N., O’Connor, J. T., & Hagopian, L. P. (2015) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2015.06.010 · Cited by 47
Visual pathway deficit in female fragile X premutation carriers: A potential endophenotype
Kéri, S., & Benedek, G. (2008) · Brain and Cognition · doi:10.1016/j.bandc.2008.08.002 · Cited by 45
In vitro neurogenesis: development and functional implications of iPSC technology
Compagnucci, C., Nizzardo, M., Corti, S. P., Zanni, G., & Bertini, E. (2013) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-013-1511-1 · Cited by 43
Hunter, J. E., Abramowitz, A. J., Rusin, M. J., & Sherman, S. L. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e31818de6ee · Cited by 44
Self-citationEmotion through Locomotion: Gender Impact
Krüger, S., Sokolov, A. N., Enck, P., Krägeloh‐Mann, I., & Pavlova, M. A. (2013) · PLoS ONE · doi:10.1371/journal.pone.0081716 · Cited by 44
Adaptive behavior in infants and toddlers with Down syndrome and fragile X syndrome
Will, E., Caravella, K. E., Hahn, L. J., Fidler, D. J., & Roberts, J. E. (2018) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32619 · Cited by 44
Growth of Expressive Syntax in Children With Fragile X Syndrome
Komesidou, R., Brady, N. C., Fleming, K., Esplund, A., & Warren, S. F. (2017) · Journal of Speech Language and Hearing Research · doi:10.1044/2016_jslhr-l-15-0360 · Cited by 43
Dynamic object representations in infants with and without fragile X syndrome
Farzin, F. (2010) · Frontiers in Human Neuroscience · doi:10.3389/neuro.09.012.2010 · Cited by 43
Modeling neurodevelopmental disorders using human neurons
Chailangkarn, T., Acab, A., & Muotri, A. R. (2012) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2012.04.004 · Cited by 44
Psychiatric and Autistic Comorbidity in Fragile X Syndrome Across Ages
Gabis, L. V., Baruch, Y. K., Jokel, A., & Raz, R. (2011) · Journal of Child Neurology · doi:10.1177/0883073810395937 · Cited by 47
“The prevalence of fragile X syndrome is estimated at 1 of 4000 to 1 of 6000 for males and 1 of 8000 to 1 of 9000 for females.(2,3) Fragile X syndrome is caused by an unstable expansion of CGG trinucleotide repeat within the promoter region of the human fragile X mental retardation 1 gene on the long arm of the X chrom…”
BackgroundResolution of spatial and temporal visual attention in infants with fragile X syndrome
Farzin, F., Rivera, S. M., & Whitney, D. C. (2011) · Brain · doi:10.1093/brain/awr249 · Cited by 39
Suhl, J. A., & Warren, S. T. (2015) · Journal of Experimental Neuroscience · doi:10.4137/jen.s25524 · Cited by 43
Behavioural equivalents of anxiety in children with fragile X syndrome: parent and teacher report
Sullivan, K. M., Hooper, S. R., & Hatton, D. D. (2006) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2006.00899.x · Cited by 42
Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X
Abrams, L. J., Cronister, A., Brown, W. T., Tassone, F., Sherman, S. L., Finucane, B. M., McConkie‐Rosell, A., Hagerman, R. J., Kaufmann, W. E., Picker, J. D., et al. (2012) · PEDIATRICS · doi:10.1542/peds.2012-0693 · Cited by 48
Self-citationAccumulated common variants in the broader fragile X gene family modulate autistic phenotypes
Stepniak, B., Kästner, A., Poggi, G., Mitjans, M., Begemann, M., Hartmann, A. M., der Auwera, S. V., Sananbenesi, F., Krueger‐Burg, D., Matuszko, G., et al. (2015) · EMBO Molecular Medicine · doi:10.15252/emmm.201505696 · Cited by 41
“Since FXS is an X-linked disorder, males are generally more severely affected, with a suggested prevalence in Caucasians ranging from 1/3,717 to 1/8,918 (Crawford et al, 2001, 2002; Coffee et al, 2009).”
BackgroundBiancalana, V., Beldjord, C., Taillandier, A., Szpiro‐Tapia, S., Cusin, V., Gerson, F., Philippe, C., Mandel, J., & The French National Working Group on Fragile X Syndrome (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30237 · Cited by 45
“The Fragile X syndrome is the most common cause of inherited mental retardation with an incidence estimated at 1 in 4,000–9,000 males [Crawford et al., 2001] and 1 in 7,000– 15,000 females.”
BackgroundThe RNA binding protein FMRP: new connections and missing links
Schaeffer, C., Beaulande, M., Ehresmann, C., Ehresmann, B., & Moine, H. (2003) · Biology of the Cell · doi:10.1016/s0248-4900(03)00037-6 · Cited by 44
“Because fragile X has a prevalence of about 1 in 4000 males and 1 in 8000 females, it is considered as the most frequent form of inherited mental retardation (Crawford et al., 2001).”
BackgroundChevreul, K., Gandré, C., Brigham, K. B., López‐Bastida, J., Linertová, R., Oliva, J., Serrano-Aguilar, P. G., de la Paz, M. P., Taruscio, D., Schieppati, A., et al. (2016) · The European Journal of Health Economics · doi:10.1007/s10198-016-0784-3 · Cited by 43
“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 [5].”
BackgroundEpigenetics, genomic mutations and cognitive function
Reichenberg, A., Mill, J. S., & MacCabe, J. H. (2009) · Cognitive Neuropsychiatry · doi:10.1080/13546800902978417 · Cited by 40
“The frequency of fragile X is estimated as 1 in 5000 males and 1 in 10,000 females (Crawford, Acuna, & Sherman, 2001 ).”
BackgroundOcular motor indicators of executive dysfunction in fragile X and Turner syndromes
Lasker, A. G., Mazzocco, M. M. M., & Zee, D. S. (2006) · Brain and Cognition · doi:10.1016/j.bandc.2006.08.002 · Cited by 40
Systematic review of pharmacological treatments in fragile X syndrome
Rueda, J.-R., Ballesteros, J., & Tejada, M. (2009) · BMC Neurology · doi:10.1186/1471-2377-9-53 · Cited by 38
“It has been estimated that FXS syndrome affects approximately 1 in 4,000 males and 1 in 8,000 females [2].”
BackgroundSocial Avoidance Emerges in Infancy and Persists into Adulthood in Fragile X Syndrome
Roberts, J. E., Crawford, H., Hogan, A. L., Fairchild, A. J., Tonnsen, B. L., Brewe, A. M., O’Connor, S. L., Roberts, D. A., & Abbeduto, L. (2019) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-019-04051-8 · Cited by 39
Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample
Movaghar, A., Page, D., Brilliant, M. H., Baker, M. W., Greenberg, J. S., Hong, J., DaWalt, L. S., Saha, K., Kuusisto, F., Stewart, R. M., et al. (2019) · Science Advances · doi:10.1126/sciadv.aaw7195 · Cited by 38
A multidisciplinary approach to the management of individuals with fragile X syndrome
Alanay, Y., Ünal, F., Turanlı, G., Alikaşifoğlu, M., Alehan, D., Akyol, U., Belgi̇n, E., Şener, C., Aktaş, D., Boduroğlu, K., et al. (2007) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2006.00942.x · Cited by 44
Early Negative Affect Predicts Anxiety, not Autism, in Preschool Boys with Fragile X Syndrome
Tonnsen, B. L., Malone, P. S., Hatton, D. D., & Roberts, J. E. (2012) · Research on Child and Adolescent Psychopathology · doi:10.1007/s10802-012-9671-2 · Cited by 41
Mirrett, P., Roberts, J. E., & Price, J. R. (2003) · Language Speech and Hearing Services in Schools · doi:10.1044/0161-1461(2003/026 · Cited by 38
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
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