Clinical features of a pedigree of charcot-marie-tooth disease type 2cc caused by the point mutation of NEFH gene
10.3760/cma.j.cn101070-20210624-00722
- VernacularTitle:NEFH基因点突变导致腓骨肌萎缩症2cc型家系的临床特征分析
- Author:
Qianqian SHENG
1
;
Peng ZHAO
;
Shujuan CHEN
;
Lin YUAN
;
Weihang MU
Author Information
1. 天津市儿童医院康复科，天津 300400
- Keywords:
Charcot-marie-tooth disease type 2cc;
NEFH gene;
Pyramidal sign;
Visual evoked potentials
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(18):1420-1423
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of 4 patients in a pedigree of charcot-marie-tooth disease type 2cc (CMT2cc) caused by the NEFH gene mutation from the Department of Rehabilitation, Tianjin Children′s Hospital in March 2020 were reviewed and analyzed retrospectively.The purpose of this study was to improve clinicians′ awareness of the di-sease.The pedigree had signs and symptoms of varying degrees of pyramidal fasciculus involvement, high arched feet, and achilles tendon contracture.The electrophysiological testing of both lower extremities suggested sensory and motor nerve axonal damage, and an abnormal visual evoked potential was observed.Second-generation sequencing revealed that the pathogenic factor was the NEFH gene variation: c.1319G>A (p.Ser440Asn), which is a new mutation site that has never been reported before. NEFH mutations can cause a complex clinical phenotype of CMT2cc, which is therefore easily misdiagnosed.Central and peripheral nerves are simultaneously involved in CMT2cc patients.Electrophysiological testing and genetic analysis are required to clarify the diagnosis of CMT2cc.
