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

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

JOURNAL=Frontiers in Pediatrics

VOLUME=10

YEAR=2022

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.898693

DOI=10.3389/fped.2022.898693

ISSN=2296-2360

ABSTRACT=<p>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<sup>*</sup>18. The parents of the child were wild-type, and the site of the mutation is novel.</p>