一个常染色体显性遗传中间型腓骨肌萎缩症E型伴肾病家系的研究

Analysis of a pedigree with autosomal dominant intermediate Charcot-Marie-Tooth disease type E and nephropathy

目的 分析1个常染色体显性遗传腓骨肌萎缩症伴肾病家系的临床表型和基因突变特点.方法 收集家系先证者及其他成员的临床资料,对先证者进行神经电生理检查、肾脏穿刺活检病理检查和基因靶向二代测序检查.结果 先证者儿童期发病,出现下肢远端为主的肌肉无力伴蛋白尿,其母亲和哥哥有类似症状.先证者神经电生理检查示运动和感觉神经脱髓鞘及轴索性改变.肾脏病理示局灶节段性肾小球硬化症.基因检查发现INF2基因第2外显子存在杂合突变c.341G>A(p.G114D).结论 常染色体显性遗传中间型腓骨肌萎缩症伴局灶节段性肾小球硬化症为该家系的临床特点,INF2基因c.341G>A为其致病突变.认识该病的临床及基因突变特点有助于早期诊断.

Objective To explore phenotypic and mutational characteristics of a pedigree affected with autosomal dominant Charcot-Marie-Tooth disease(CMT)and nephropathy.Methods Clinical data of the proband and his family members was collected.Electrophysiology,renal biopsy and next-generation sequencing were carried out for the proband.Results The proband presented with distal lower limb weakness and proteinuria in childhood.His mother and brother had similar symptoms.Electrophysiological test of the proband revealed demyelination and axonal changes in both motor and sensory nerves.Renal biopsy suggested focal segmental glomerulosclerosis.Genetic testing revealed a heterozygous c.341G>A(p.G114D)mutation in exon 2 of the INF2 gene.Conclusion The phenotypic feature of the pedigree is autosomal dominant intermediate CMT and focal segmental glomerulosclerosis,which may be attributed to the c.341G>A mutation of the INF2 gene.