Heterogeneous phenotype detection in a Charcot-Marie-Tooth disease type 2A family with Mitofusin 2 gene Q751X mutation by targeted next-generation sequencing
نویسندگان
چکیده
Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous inherited neuropathies, characterized by slowly progressive distal weakness, wasting and sensory loss. CMT type 2A (CMT2A), caused by the mutations in the mitofusin 2 gene (MFN2), is the most common CMT2 subtype. Herein, we described the clinical, electrophysiological and pathological findings on a 4-generation family with four patients affected with CMT2A. Using targeted next-generation sequencing (NGS), a nonsense mutation Q751X in the MFN2 gene was identified in the four patients. The clinical features, including onset age and phenotype severity, greatly varied among the patients in this family. One male member had a late disease onset and mild phenotype due to the heterozygous Q751X mutation, which was previously reported to be only associated with an early onset and severe CMT2A phenotype.
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