Objective To explore the clinical and genotypic characteristics of children with autosomal recessive Charcot-Marie-Tooth disease type 4(CMT4K).Methods The clinical data of a child with CMT4K diagnosed in Children's Hospital of Nanjing Medical University were retrospectively analyzed.Results The patient,male,is 1-year-old and 7-month-old,with delayed motor development by 4 months,low muscle tone,and electromyographic suggested demyelinating multiple peripheral neurogenic lesions.Gene sequencing revealed two heterozygous mutations in the SURF1 gene.The father of the subject showed heterozygous mutations at locus c.314_117delTGCC(p.L105Qfs*7),while the mother showed heterozygous mutations at locus c.588+1_588+3delGTA(splicing),leading to the diagnosis of CMT4K.Conclusion CMT4K is an auto-somal recessive inherited disease caused by SURF1 mutation,with clinical heterogeneity in phenotype.The heterozygous mutations c.314_117delTGCC and c.588+1_588+3delGTA in this study expanded the mutation spectrum of the SURF1 gene.
Charcot-Marie-Tooth disease type 4SURF1 geneclinical phenotype
NETL
NSTL
万方数据
