Frontiers in Pediatrics (Aug 2022)

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
https://doi.org/10.3389/fped.2022.898693
Journal volume & issue
Vol. 10

Abstract

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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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