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01-04-2020 | Original Article

Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2

Authors: Shan Lin, Liu-Qing Xu, Guo-Rong Xu, Ling-Ling Guo, Bi-Juan Lin, Wan-Jin Chen, Ning Wang, Yi Lin, Jin He

Published in: Neurogenetics | Issue 2/2020

Abstract

Charcot-Marie-Tooth disease type 2 (CMT2) is a clinically and genetically heterogeneous inherited neuropathy. Although new causative and disease-associated genes have been identified for CMT2 in recent years, molecular diagnoses are still lacking for a majority of patients. We here studied a cohort of 35 CMT2 patients of Chinese descent, using whole exome sequencing to investigate gene mutations and then explored relationships among genotypes, clinical features, and mitochondrial DNA levels in blood as assessed by droplet digital PCR. We identified pathogenic variants in 57% of CMT2 patients. The most common genetic causes in the cohort were MFN2 mutations. Two patients with typical CMT phenotype and neuromyotonia were detected to harbor compound heterozygous variations in the HINT1 gene. In conclusion, our work supports that the molecular diagnostic rate of CMT2 patients can be increased via whole exome sequencing, and our data suggest that assessment of possible HINT1 mutations should be undertaken for CMT2 patients with neuromyotonia.

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Title: Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2
Authors: Shan Lin
Liu-Qing Xu
Guo-Rong Xu
Ling-Ling Guo
Bi-Juan Lin
Wan-Jin Chen
Ning Wang
Yi Lin
Jin He
Publication date: 01-04-2020
Publisher: Springer Berlin Heidelberg
Published in: Neurogenetics / Issue 2/2020
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-019-00591-4

ACC 2024 Congress

Springer Medicine

Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2

Abstract

ACC 2024 Congress

Springer Medicine

Abstract

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