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

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...

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Detalles Bibliográficos
Autores principales: Zhang, Suli, Lin, Shuangzhu, Liu, Zhenxian, Wang, Wanqi, Li, Jiayi, Chen, Qiandui, Yang, Li, Wang, Cui, Pang, Qiming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441800/
https://www.ncbi.nlm.nih.gov/pubmed/36071884
http://dx.doi.org/10.3389/fped.2022.898693
Descripción
Sumario: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.

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