Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
Open accessAbstract
BACKGROUND: Whole-genome sequencing may revolutionize medical diagnostics through rapid identification of alleles that cause disease. However, even in cases with simple patterns of inheritance and unambiguous diagnoses, the relationship between disease phenotypes and their corresponding genetic changes can be complicated. Comprehensive diagnostic assays must therefore identify all possible DNA changes in each haplotype and determine which are responsible for the underlying disorder. The high number of rare, heterogeneous mutations present in all humans and the paucity of known functional variants in more than 90% of annotated genes make this challenge particularly difficult. Thus, the identification of the molecular basis of a genetic disease by means of whole-genome sequencing has remained elusive. We therefore aimed to assess the usefulness of human whole-genome sequencing for genetic diagnosis in a patient with Charcot-Marie-Tooth disease. METHODS: We identified a family with a recessive form of Charcot-Marie-Tooth disease for which the genetic basis had not been identified. We sequenced the whole genome of the proband, identified all potential functional variants in genes likely to be related to the disease, and genotyped these variants in the affected family members. RESULTS: We identified and validated compound, heterozygous, causative alleles in SH3TC2 (the SH3 domain and tetratricopeptide repeats 2 gene), involving two mutations, in the proband and in family members affected by Charcot-Marie-Tooth disease. Separate subclinical phenotypes segregated independently with each of the two mutations; heterozygous mutations confer susceptibility to neuropathy, including the carpal tunnel syndrome. CONCLUSIONS: As shown in this study of a family with Charcot-Marie-Tooth disease, whole-genome sequencing can identify clinically relevant variants and provide diagnostic information to inform the care of patients.
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The most plausible explanation for incorrect detection of c.1823 G>A as a non-deleterious SNP is that the same variant is present in an ABCD1 pseudogene on chromosome 2 and was mistakenly attributed to the real ABCD1 gene.
“Therefore, the most plausible explanation for the incorrect detection of the mutation in the former study52 is that the same variant is present in an ABCD1 pseudogene located on chromosome 2 and was by mistake attributed to the real ABCD1 gene.”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [52]
The Results (Genome Variation; page unavailable) report an ABCD1 SNP in a patient without adrenoleukodystrophy and suggest that its classification as a disease mutation might be erroneous. The paper does not identify c.1823 G>A, an ABCD1 pseudogene on chromosome 2, or mistaken attribution to the real gene as the explanation. The citing authors present that explanation as their own inference. (LLM, conf=0.85)
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Exome Sequencing Can Improve Diagnosis and Alter Patient Management
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“Whereas whole-genome sequencing is another technology that is sure to change the face of medicine in the future, whole-exome sequencing has captured the attention of the clinical genetics community because most genetic variants of large effect reside in the exome, because intronic mutations are difficult to interpret…”
BackgroundGenetics of Nonsyndromic Orofacial Clefts
Rahimov, F., Jugessur, A., & Murray, J. (2011) · The Cleft Palate-Craniofacial Journal · doi:10.1597/10-178 · Cited by 280 · see citing works
“…practical to do whole-exome (the protein-coding part of the genome) or even whole-genome sequencing for Mendelian disorders (Ng et al., 2009, 2010b; Lupski et al., 2010), providing impetus to apply this strategy to complex traits such as NS CL/P, particularly in large and/or inbred families in…”
BackgroundINF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
Boyer, O., Névo, F., Plaisier, E., Funalot, B., Gribouval, O., Benoît, G., Huynh-Cong, E., Arrondel, C., Tête, M., Montjean, R., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1109122 · Cited by 277 · see citing works
“At least 40 different genes or loci have been associated with this disease (as has been reviewed by Lupski and colleagues).(3) Autosomal dominant Charcot–Marie–Tooth type 1 is the most prevalent form, with mutations in the peripheral myelin protein 22 gene (PMP22) and the myelin protein zero gene (MPZ) underlying most…”
Heritability and familiality of type 2 diabetes and related quantitative traits in the Botnia Study
Almgren, P., Lehtovirta, M., Isomaa, B., Sarelin, L., Taskinen, M., Lyssenko, V., Tuomi, T., & Groop, L. (2011) · Diabetologia · doi:10.1007/s00125-011-2267-5 · Cited by 275 · see citing works
“Exome and whole-genome sequencing of families with extreme type 2 diabetes-related traits [37, 38] provide appealing approaches to find the missing heritability of type 2 diabetes.”
BackgroundAutosomal Recessive Causes Likely in Early-Onset Alzheimer Disease
Wingo, T. S. (2012) · Archives of Neurology · doi:10.1001/archneurol.2011.221 · Cited by 265 · see citing works
Molecular diagnostic experience of whole-exome sequencing in adult patients
Posey, J. E., Rosenfeld, J. A., James, R. A., Bainbridge, M. N., Niu, Z., Wang, X., Dhar, S. U., Wiszniewski, W. K., Coban‐Akdemir, Z., Gambin, T., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.142 · Cited by 240 · see citing works
Self-citationGenetic Susceptibility to Autoimmune Thyroid Disease: Past, Present, and Future
Tomer, Y. (2010) · Thyroid · doi:10.1089/thy.2010.1644 · Cited by 251 · see citing works
“Whole-genome sequencing has already been utilized successfully in two patients, one with Carcot-Marie-Tooth disease (14) and the other with acute myeloid leukemia (15).”
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Stray‐Pedersen, A., Sorte, H. S., Samarakoon, P. S., Gambin, T., Chinn, I. K., Coban‐Akdemir, Z., Erichsen, H. C., Forbes, L. R., Gu, S., Yuan, B., et al. (2016) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2016.05.042 · Cited by 281 · see citing works
“Widespread use of WES in diagnostics and research reveals that even variants listed as deleterious in HGMD can be misclassified.(74) A case in point is the intronic BTK variant c.”
BackgroundSelf-citationGonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L., Francescatto, L., Ozes, B., Karaca, E., Jhangiani, S., Bainbridge, M., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.07.023 · Cited by 249 · see citing works
“However, association of the deletion carrier status with susceptibility to developing carpal tunnel syndrome (CTS) has been documented (Cruz-Martinez and Arpa, 1998; Potocki et al., 1999; Del Colle et al., 2003).”
BackgroundInfluentialSelf-citationMonogenic causes of chronic kidney disease in adults
Connaughton, D., Kennedy, C., Shril, S., Mann, N., Murray, S., Williams, P. A., Conlon, E., Nakayama, M., van der Ven, A. T., Ityel, H., et al. (2019) · Kidney International · doi:10.1016/j.kint.2018.10.031 · Cited by 244 · see citing works
“Comparison of the clinical characteristics of the 138 affected patients with chronic kidney disease by molecular genetic diagnostic category following whole exome sequencing Molecular genetic diagnostic category post WES Median age in years of onset of ESKD [years] (range) CKD only in adulthood a (%) ESKD in adulthood…”
BackgroundOptimized filtering reduces the error rate in detecting genomic variants by short-read sequencing
Reumers, J., Rijk, P. D., Zhao, H., Liekens, A. M. L., Smeets, D., Cleary, J., Loo, P. V., Bossche, M. J. A. V. D., Catthoor, K., Sabbe, B., et al. (2011) · Nature Biotechnology · doi:10.1038/nbt.2053 · Cited by 234 · see citing works
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success
Timmerman, V., Strickland, A. V., & Züchner, S. (2014) · Genes · doi:10.3390/genes5010013 · Cited by 234 · see citing works
“In the patient sample a compound heterozygous mutation was identified in SH3TC2, a previously known gene for recessive CMT [97,99].”
BackgroundInfluentialReid, J. G., Carroll, A. W., Veeraraghavan, N., Dahdouli, M., Sundquist, A., English, A. C., Bainbridge, M. N., White, S. J., Salerno, W. J., Buhay, C., et al. (2014) · BMC Bioinformatics · doi:10.1186/1471-2105-15-30 · Cited by 215 · see citing works
Self-citationAccurate and comprehensive sequencing of personal genomes.Preprint
Ajay, S., Parker, S., Abaan, H., Fuentes-Fajardo, K., & Margulies, E. (2011) · Genome Research · doi:10.1101/gr.123638.111 · Cited by 233 · see citing works
“Whole-genome sequencing and analysis is becoming part of a translational research toolkit (Lupski et al. 2010; Sobreira et al. 2010) to investigate small-scale changes such as single-nucleotide variants (SNVs) and indels (Bentley et al. 2008; Wang et al. 2008; Kim et al. 2009; McKernan et al. 2009;…”
BackgroundLessons learned from additional research analyses of unsolved clinical exome cases
Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., et al. (2017) · Genome Medicine · doi:10.1186/s13073-017-0412-6 · Cited by 230 · see citing works
Self-citationLelieveld, S. H., Spielmann, M., Mundlos, S., Veltman, J. A., & Gilissen, C. (2015) · Human Mutation · doi:10.1002/humu.22813 · Cited by 217 · see citing works
“The cost of whole-genome sequencing (WGS) is becoming less prohibitive for applying WGS as a clinical test [Hayden, 2014], and pilot studies have already been performed [Lupski et al., 2010; Jiang et al., 2013; Gilissen et al., 2014; Soden et al., 2014].”
MethodBishop, N. B., Stankiewicz, P., & Steinhorn, R. (2011) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201010-1697ci · Cited by 217 · see citing works
Self-citationBainbridge, M. N., Wang, M., Wu, Y., Newsham, I., Muzny, D. M., Jefferies, J. L., Albert, T. J., Burgess, D. L., & Gibbs, R. A. (2011) · Genome biology · doi:10.1186/gb-2011-12-7-r68 · Cited by 201 · see citing works
Self-citationPuente, X. S., Quesada, V., Osorio, F. G., Cabanillas, R., Cadiñanos, J., Fraile, J. M., Ordóñez, G. R., Puente, D. A., Gutiérrez‐Fernández, A., Fanjul‐Fernández, M., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.04.010 · Cited by 209 · see citing works
A probabilistic disease-gene finder for personal genomes.Preprint
Yandell, M., Huff, C., Hu, H., Singleton, M., Moore, B., Xing, J.-C., Jorde, L., & Reese, M. G. (2011) · Genome Research · doi:10.1101/gr.123158.111 · Cited by 210 · see citing works
Loss-of-function variants in the genomes of healthy humans
MacArthur, D. G., & Tyler‐Smith, C. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq365 · Cited by 195 · see citing works
“To illustrate the extent of the discrepancy, one recent exome sequencing study (27) reported an average of 45 nonsense SNPs, 16 splice-disrupting SNPs and 46 frameshift indels per genome in individuals of non-African ancestry, whereas a whole-genome sequence of a European male (28) reported 121 stop SNPs and 112 splic…”
BackgroundExome Sequencing Identifies ZNF644 Mutations in High Myopia
Shi, Y., Li, Y., Zhang, D., Zhang, H., Li, Y., Lü, F., Liu, X., He, F., Gong, B., Li, C., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002084 · Cited by 195 · see citing works
“This limitation promotes the use of the whole sequencing method to identify disease genes [26,37].”
MethodModel Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
Wangler, M. F., Yamamoto, S., Chao, H., Posey, J. E., Westerfield, M., Postlethwait, J. H., Members of the Undiagnosed Diseases Network (UDN), Hieter, P., Boycott, K. M., Campeau, P. M., et al. (2017) · Genetics · doi:10.1534/genetics.117.203067 · Cited by 208 · see citing works
“…function of thousands of genes in the human genome, and providing insights into the mechanisms of both rare Mendelian disease and more common, complex traits (Albert et al. 2007; Levy et al. 2007; Wheeler et al. 2008; Bainbridge et al. 2010; Lupski et al. 2010; Blair et al. 2013;Wu et al. 2015).”
BackgroundComprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
Firdous, A., Selwa, H., Tarek, O., Sameera, S., Shazia, S., Salma, M., Mohamed, A., Rula, A., Īmān, A., Khalid, A., et al. (2015) · Genome Biology · doi:10.1186/s13059-015-0693-2 · Cited by 196 · see citing works
Massively parallel sequencing and rare disease
Ng, S. B., Nickerson, D. A., Bamshad, M. J., & Shendure, J. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq390 · Cited by 177 · see citing works
“For example, in whole-genome sequencing of an individual with Chacot–Marie–Tooth disease (CMT) (22), analysis of coding variants identified a nonsense mutation in SH3TC2 that was already implicated in CMT, and consistent with the recessive mode of inheritance, a novel missense mutation in the same…”
BackgroundValencia, C. A., Husami, A., Holle, J. R., Johnson, J. A., Qian, Y., Mathur, A., Wei, C., Indugula, S. R., Zou, F., Meng, H., et al. (2015) · Frontiers in Pediatrics · doi:10.3389/fped.2015.00067 · Cited by 185 · see citing works
Exome sequencing: Dual role as a discovery and diagnostic tool
Ku, C., Cooper, D. N., Polychronakos, C., Naidoo, N., Wu, M., & Soong, R. (2011) · Annals of Neurology · doi:10.1002/ana.22647 · Cited by 174 · see citing works
“However, this mutation could also have been identified more rapidly and cost-effectively by means of exome sequencing.(20) Although many candidate genes for CMT have been identified to date, approximately 70% of CMT2 cases still have no identifiable genetic cause, suggesting additional heterogeneity.”
BackgroundNext-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges
Pipis, M., Rossor, A. M., Laurá, M., & Reilly, M. M. (2019) · Nature Reviews Neurology · doi:10.1038/s41582-019-0254-5 · Cited by 218 · see citing works
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
Cooper, D. N., Chen, J., Ball, E. V., Howells, K., Mort, M. E., Phillips, A. D., Chuzhanova, N. A., Krawczak, M., Kehrer‐Sawatzki, H., & Stenson, P. D. (2010) · Human Mutation · doi:10.1002/humu.21260 · Cited by 181 · see citing works
“, 2009b] and whole-genome sequencing [Lupski et al., 2010; Roach et al., 2010], the identification of inherited pathological mutations is entering a new era.”
BackgroundRios, J. J., Stein, E. A., Shendure, J., Hobbs, H. H., & Cohen, J. C. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq352 · Cited by 164 · see citing works
“(4), who sequenced the genome of a proband with Charcot–Marie–Tooth disease, an inherited peripheral neuropathy that can be caused by mutations in 39 separate loci (5).”
BackgroundRossetti, S., Hopp, K., Sikkink, R. A., Sundsbak, J. L., Lee, Y. K., Kubly, V. J., Eckloff, B. W., Ward, C. J., Winearls, C. G., Torres, V. E., et al. (2012) · Journal of the American Society of Nephrology · doi:10.1681/asn.2011101032 · Cited by 176 · see citing works
The burden of inherited leukodystrophies in children
Bonkowsky, J., Nelson, C., Kingston, J., Filloux, F., Mundorff, M., & Srivastava, R. (2010) · Neurology · doi:10.1212/wnl.0b013e3181eee46b · Cited by 176 · see citing works
An informatics approach to analyzing the incidentalome
Berg, J., Adams, M. C., Nassar, N., Bizon, C., Lee, K., Schmitt, C., Wilhelmsen, K., & Evans, J. P. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.112 · Cited by 175 · see citing works
“Genet Med 2013:15(1):36–44 Key Words: clinical informatics; incidental findings; secondary findings; whole-exome sequencing; whole-genome sequencing”
BackgroundThe promise and challenges of next-generation genome sequencing for clinical care.
Taber, K. J. J., Dickinson, B. D., & Wilson, M. E. H. (2014) · JAMA Internal Medicine · doi:10.1001/jamainternmed.2013.12048 · Cited by 174 · see citing works
Disease Pathways and Novel Therapeutic Targets in Hypertrophic Cardiomyopathy
Ashrafian, H., McKenna, W. J., & Watkins, H. C. (2011) · Circulation Research · doi:10.1161/circresaha.111.242974 · Cited by 171 · see citing works
The Characterization of Twenty Sequenced Human Genomes
Pelak, K., Shianna, K., Ge, D., Maia, J., Zhu, M., Smith, J. P., Cirulli, E., Fellay, J., Dickson, S., Gumbs, C., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001111 · Cited by 168 · see citing works
“Whole genome sequencing has also been used to identify rare, disease-causing variants by sequencing the genome of one or a small number of affected individuals and then performing necessary follow-up work to confirm the variant [7-9], and it has also been used to study the patterns of variation that develop in cancero…”
BackgroundExploring Concordance and Discordance for Return of Incidental Findings from Clinical Sequencing
Green, R., Berg, J., Berry, G., Biesecker, L., Dimmock, D., Evans, J. P., Grody, W., Hegde, M., Kalia, S. S., Korf, B., et al. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.21 · Cited by 160 · see citing works
Self-citationChallenges of sequencing human genomes
Koboldt, D., Ding, L., Mardis, E., & Wilson, R. K. (2010) · Briefings Bioinform. · doi:10.1093/bib/bbq016 · Cited by 158 · see citing works
“Indeed, the recent sequencing and analysis of a proband with Charcot–Marie tooth syndrome [22] demonstrates that these technologies have the potential for diagnostics in a clinical setting.”
BackgroundOpportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing
Schrijver, I., Aziz, N., Farkas, D. H., Furtado, M. R., Gonzalez, A. F., Greiner, T. C., Grody, W. W., Hambuch, T. M., Kalman, L. V., Kant, J. A., et al. (2012) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2012.04.006 · Cited by 148 · see citing works
Structural variation mutagenesis of the human genome: Impact on disease and evolution
Lupski, J. R. (2015) · Environmental and Molecular Mutagenesis · doi:10.1002/em.21943 · Cited by 147 · see citing works
“Indeed, compound heterozygous variant alleles at the SH3TC2 locus were identified [Lupski et al., 2010]—the power of personal genome sequencing was revealed to me and indeed became personal.”
BackgroundSelf-citationAssessing structural variation in a personal genome—towards a human reference diploid genome
English, A. C., Salerno, W. J., Hampton, O. A., Gonzaga-Jauregui, C. G., Ambreth, S., Ritter, D., Beck, C. R., Davis, C., Dahdouli, M., Ma, S., et al. (2015) · BMC Genomics · doi:10.1186/s12864-015-1479-3 · Cited by 150 · see citing works
“This individual has been previously analyzed with aCGH data and by whole-genome and whole-exome sequencing, revealing novel SH3TC2 SNVs causative for the subject ’ s autosomal recessive Charcot-Marie-Tooth (CMT) neuropathy [25,26].”
MethodSelf-citationThe next-generation sequencing technology and application
Zhou, X., Ren, L., Meng, Q., Li, Y., Yu, Y., & Yu, J. M. (2010) · Protein & Cell · doi:10.1007/s13238-010-0065-3 · Cited by 151 · see citing works
“More recently, James Lupski’s genome was sequenced to 30× base coverage using ABI’s SOLiD System (Lupski et al., 2010).”
MethodMultiple sclerosis genetics—is the glass half full, or half empty?
Oksenberg, J., & Baranzini, S. (2010) · Nature Reviews Neurology · doi:10.1038/nrneurol.2010.91 · Cited by 152 · see citing works
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
Thormann, A., Halachev, M., McLaren, W., Moore, D. J., Svinti, V., Campbell, A., Kerr, S. M., Tischkowitz, M., Hunt, S. E., Dunlop, M. G., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10016-3 · Cited by 151 · see citing works
Whole exome and whole genome sequencing
Bick, D. P., & Dimmock, D. (2011) · Current Opinion in Pediatrics · doi:10.1097/mop.0b013e32834b20ec · Cited by 150 · see citing works
Bioinformatics for Clinical Next Generation Sequencing
Oliver, G. R., Hart, S. N., & Klee, E. W. (2014) · Clinical Chemistry · doi:10.1373/clinchem.2014.224360 · Cited by 176 · see citing works
Exome sequencing: a transformative technology
Singleton, A. (2011) · The Lancet Neurology · doi:10.1016/s1474-4422(11)70196-x · Cited by 137 · see citing works
Whole-genome resequencing allows detection of many rare LINE-1 insertion alleles in humans.Preprint
Ewing, A., & Kazazian, H. (2011) · Genome Research · doi:10.1101/gr.114777.110 · Cited by 149 · see citing works
“A number of human genomes have been se- quenced using these next-generation technologies, yielding insights into human variation and the genetic basis of human dis- ease (Lupski et al. 2010).”
BackgroundThe MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine
Vassy, J., Lautenbach, D. M., McLaughlin, H., Kong, S., Christensen, K. D., Krier, J., Kohane, I., Feuerman, L. Z., Blumenthal-Barby, J., Roberts, J., et al. (2014) · Trials · doi:10.1186/1745-6215-15-85 · Cited by 148 · see citing works
“It is already demonstrating clinical utility for the diagnosis and treatment of certain cancers [5,19] and rare diseases [2,3,20-22] and shows promise for use in infectious disease outbreaks [23-25] and fetal diagnosis in prenatal medicine [7,26].”
BackgroundSelf-citationLupski, J., Gonzaga-Jauregui, C., Yang, Y.-P., Bainbridge, M., Jhangiani, S., Buhay, C., Kovar, C., Wang, M., Hawes, A., Reid, J., et al. (2013) · Genome Medicine · doi:10.1186/gm461 · Cited by 148 · see citing works
“M1? variant is novel, since our original report [2] the p.”
BackgroundMethodSelf-citationTabor, H., Berkman, B. E., Hull, S., & Bamshad, M. (2011) · American Journal of Medical Genetics. Part A · doi:10.1002/ajmg.a.34357 · Cited by 148 · see citing works
“, 2010], Charcot-Marie-Tooth (CMT4C [OMIM 601596]) [Lupski et al., 2010], and Kabuki (KMS [OMIM 147920]) [Ng et al.”
Ju, Y. S., Kim, J., Kim, S., Hong, D., Park, H., Shin, J.-Y., Lee, S., Lee, W., Kim, S.-J., Yu, S.-B., et al. (2011) · Nature Genetics · doi:10.1038/ng.872 · Cited by 138 · see citing works
- Authors
- Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., McGuire, A. L., Zhang, F., Stankiewicz, P., Halperin, J. J., Yang, C., Gehman, C., Guo, D., Irikat, R. K., Tom, W., Fantin, N. J., Muzny, D. M., & Gibbs, R. A.
- Affiliations
- Baylor College of Medicine (US)
- Icahn School of Medicine at Mount Sinai (US)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2010-04
- Volume
- 362
- Issue
- 13
- Pages
- 1181-1191
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC4036802
- OpenAlex
- W2118246164
- Cited by
- 759
- References
- 40
- Citations by year
- 2026: 4 · 2025: 11 · 2024: 14 · 2023: 10 · 2022: 12 · 2021: 27 · 2020: 20 · 2019: 25 · 2018: 19 · 2017: 23 · 2016: 41 · 2015: 52 · 2014: 76 · 2013: 82 · 2012: 132
- FWCI
- 54.74
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Human Genome Research Institute (U54HG003273)
- National Institute of Neurological Disorders and Stroke (R01NS058529)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- Charcot-Marie-Tooth disease, whole genome sequencing, genetic diagnosis, recessive inheritance, SH3TC2, compound heterozygosity, carpal tunnel syndrome, rare variants
- MeSH terms
- Adult, Aged, Aged, 80 and over, Charcot-Marie-Tooth Disease, Female, Genes, Recessive, Genotype, Humans, Male, Middle Aged, Pedigree, Phenotype, Genome, Human, Sequence Analysis, DNA, Codon, Nonsense, Mutation, Missense, Polymorphism, Single Nucleotide, Genetic Association Studies
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