Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C

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

doi:10.3389/fped.2022.898693

Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C

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

Authors

Suli Zhang¹, Shuangzhu Lin², Zhenxian Liu², Wanqi Wang³, Jiayi Li³, Qiandui Chen³, Li Yang¹, Cui Wang¹, Qiming Pang¹

Affiliations

¹ Department of Neuroscience, Hainan Women and Children's Medical Center, Haikou, China.
² First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun, China.
³ Changchun University of Chinese Medicine, Changchun, China.

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.

Keywords: Hirschsprung's disease; SOX10 gene; Waardenburg syndrome type 4C; child; deafness.

Publication types

Case Reports