病例报告：一名患有4C型瓦登伯革氏综合征的中国婴儿中SOX10基因的异质性突变。

Zhang Suli, Lin Shuangzhu, Liu Zhenxian, Wang Wanqi, Li Jiayi, Chen Qiandui, Yang Li, Wang Cui, Pang Qiming

Department of Neuroscience, Hainan Women and Children's Medical Center, Haikou, China.

First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun, China.

Front Pediatr. 2022 Aug 22;10:898693. doi: 10.3389/fped.2022.898693. eCollection 2022.

A 5-month-old patient presented with grayish-blue iris bilaterally, skin and mucosal pigmentation loss, Hirschsprung's disease, full-blown growth retardation, and sensorineural deafness. The patient's whole exon gene sequencing revealed a spontaneous heterozygous code-shifting mutation in the SOX10 gene: c.803del:p.K268Sfs18. The parents of the child were wild-type, and the site of the mutation is novel.

一名5个月大的患者双侧虹膜呈灰蓝色，皮肤和黏膜色素脱失，患有先天性巨结肠，全面生长发育迟缓以及感音神经性耳聋。对该患者进行全外显子基因测序，结果显示SOX10基因存在一个自发的杂合移码突变：c.803del:p.K268Sfs18。患儿的父母为野生型，该突变位点为新发现的。