Author:
Zhang Suli,Lin Shuangzhu,Liu Zhenxian,Wang Wanqi,Li Jiayi,Chen Qiandui,Yang Li,Wang Cui,Pang Qiming
Abstract
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.K268Sfs*18. The parents of the child were wild-type, and the site of the mutation is novel.
Subject
Pediatrics, Perinatology and Child Health