Analysis of a pedigree with autosomal dominant intermediate Charcot-Marie-Tooth disease type E and nephropathy
10.3760/cma.j.issn.1003-9406.2019.09.016
- VernacularTitle: 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
- Author:
Jun FU
1
;
Mingming MA
;
Mi PANG
;
Liang YANG
;
Gang LI
;
Jia SONG
;
Jiewen ZHANG
Author Information
1. Department of Neurology, Henan Provincial People’s Hospital, Zhengzhou, Henan 450003, China
- Publication Type:Clinical Trail
- Keywords:
Charcot-Marie-Tooth disease;
Nephropathy;
Focal segmental glomerulosclerosis;
INF2gene
- From:
Chinese Journal of Medical Genetics
2019;36(9):918-921
- CountryChina
- Language:Chinese
-
Abstract:
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.
