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Erschienen in: neurogenetics 2/2020

12.12.2019 | Original Article

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

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

Erschienen in: neurogenetics | Ausgabe 2/2020

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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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Metadaten
Titel
Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2
verfasst von
Shan Lin
Liu-Qing Xu
Guo-Rong Xu
Ling-Ling Guo
Bi-Juan Lin
Wan-Jin Chen
Ning Wang
Yi Lin
Jin He
Publikationsdatum
12.12.2019
Verlag
Springer Berlin Heidelberg
Erschienen in
neurogenetics / Ausgabe 2/2020
Print ISSN: 1364-6745
Elektronische ISSN: 1364-6753
DOI
https://doi.org/10.1007/s10048-019-00591-4

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