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

Clinical features of a pedigree of charcot-marie-tooth disease type 2cc caused by the point mutation of NEFH gene

回顾性收集2020年3月于天津市儿童医院康复科就诊并确诊为NEFH基因突变致腓骨肌萎缩症2cc型(CMT2cc)一个家系三代4例患者的临床资料, 以提高临床医师对该病的认知。4例患者临床表现为不同程度的锥体束受累症状和体征、高弓足、跟腱挛缩, 双下肢神经电生理检测提示感觉、运动神经轴索损害及视觉诱发电位检测异常。二代测序结果为NEFH基因c.1319G>A(p.Ser440Asn), 该突变是既往未见报道的新突变位点。NEFH基因突变可致CMT2cc临床表型复杂, 且易被误诊, 中枢神经和周围神经同时受累, 需通过电生理检测及基因分析明确诊断。

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.