Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot–Marie

Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot–Marie–Tooth Disease

Published:2023-09-30 Issue:1 Volume:271 Page:497-503
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Lin Zhiqiang^ORCID,Liu Lei^ORCID,Li Xiaobo,Huang Shunxiang,Zhao Huadong,Zeng Sen,Yang Honglan,Xie Yongzhi,Zhang Ruxu^ORCID

Funder

National Natural Science Foundation of China

Provincial Natural Science Foundation of Hunan

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s00415-023-11991-w.pdf

Reference28 articles.

1. Skre H (1974) Genetic and clinical aspects of Charcot–Marie–Tooth’s disease. Clin Genet 6:98–118. https://doi.org/10.1111/j.1399-0004.1974.tb00638.x

2. Harding AE, Thomas PK (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103:259–280. https://doi.org/10.1093/brain/103.2.259

3. Davis CJ, Bradley WG, Madrid R (1978) The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum 26:311–349

4. Wenger AM, Guturu H, Bernstein JA, Bejerano G (2017) Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. Genet Med 19:209–214. https://doi.org/10.1038/gim.2016.88

5. Smedley D, Jacobsen JO, Jäger M et al (2015) Next-generation diagnostics and disease-gene discovery with the Exomiser. Nat Protoc 10:2004–2015. https://doi.org/10.1038/nprot.2015.124