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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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
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author Zhang, Suli
Lin, Shuangzhu
Liu, Zhenxian
Wang, Wanqi
Li, Jiayi
Chen, Qiandui
Yang, Li
Wang, Cui
Pang, Qiming
author_facet Zhang, Suli
Lin, Shuangzhu
Liu, Zhenxian
Wang, Wanqi
Li, Jiayi
Chen, Qiandui
Yang, Li
Wang, Cui
Pang, Qiming
author_sort Zhang, Suli
collection PubMed
description 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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spelling pubmed-94418002022-09-06 Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C Zhang, Suli Lin, Shuangzhu Liu, Zhenxian Wang, Wanqi Li, Jiayi Chen, Qiandui Yang, Li Wang, Cui Pang, Qiming Front Pediatr Pediatrics 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. Frontiers Media S.A. 2022-08-22 /pmc/articles/PMC9441800/ /pubmed/36071884 http://dx.doi.org/10.3389/fped.2022.898693 Text en Copyright © 2022 Zhang, Lin, Liu, Wang, Li, Chen, Yang, Wang and Pang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Zhang, Suli
Lin, Shuangzhu
Liu, Zhenxian
Wang, Wanqi
Li, Jiayi
Chen, Qiandui
Yang, Li
Wang, Cui
Pang, Qiming
Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C
title Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C
title_full Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C
title_fullStr Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C
title_full_unstemmed Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C
title_short Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C
title_sort case report: heterogeneous mutations of sox10 gene in a chinese infant with waardenburg syndrome type 4c
topic Pediatrics
url 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
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