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

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.

SUBMITTER: Zhang S 

PROVIDER: S-EPMC9441800 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature