TRPV4型
先证者
医学
外显子组测序
突变
萎缩
发育不良
遗传学
病理
内科学
生物
基因
瞬时受体电位通道
受体
作者
Ying Liu,Xuejing Yan,Yongzhen Chen,Zhiyi He,Yina Ouyang
标识
DOI:10.1016/j.jns.2020.117153
摘要
Mutations in the transient receptor potential vanilloid 4 (TRPV4) gene, encoding a polymodal Ca2+ permeable channel, have been associated with a spectrum of dominantly inherited skeletal dysplasias and neuropathies. The clinical manifestations of TRPV4-associated disorders are highly heterogeneous. This study describes a large Chinese family with a novel mutation in the TRPV4 gene. Nineteen individuals from this family were investigated. Clinical, electrophysiological, and radiographic examinations were performed. The proband and other four affected family members showed signs of congenital distal spinal muscular atrophy, skeletal abnormalities including osteonecrosis of the femoral head, and scaly skin. Based on whole-exome sequencing analysis, a novel heterozygous mutation was identified in the proband in the TRPV4 gene at position c.2355G > T, resulting in a tryptophan to cysteine substitution at amino acid 785 (p.Trp785Cys) of TRPV4. Furthermore, the mutation co-segregated with disease in this family. Thus, our findings further contributed to expansion of the clinical and phenotypic spectrum of TRPV4-associated disorders.
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