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Frontiers in Medical Science Research, 2024, 6(4); doi: 10.25236/FMSR.2024.060402.

Genotype and phenotype analysis of a family with Waardenburg syndrome type Ⅱ caused by a de novo mutation in SOX10 gene


Li Xia1, Zhao Heng1, Ma Xiuli1,2,3, Ding Chaohong2, Ma Jing1

Corresponding Author:
Ma Jing

1Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital [Children's Hospital Affiliated to Kunming Medical University], Kunming, Yunnan, 650228, China

2Yunnan Pediatric of Institute, Kunming Children's Hospital [Children's Hospital Affiliated to Kunming Medical University], Kunming, Yunnan, 650228, China

3Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, Yunnan, 650228, China


Gather clinical information about children with WS phenotype, including their medical history, pedigree, and imaging and hearing tests, with their informed consent. To find the genes linked to hearing loss, gather peripheral blood, extract genomic DNA, and apply high-throughput sequencing techniques. Conduct a temporal bone CT scan on the proband to assess inner ear development. Test the proband's and their family members' peripheral blood using flow cytometry. The child was diagnosed with inner ear developmental defects and one heterozygous mutation (c.77_104delGGAGCGCGCCTCTAGGGCCCGACGG) in the SOX10 gene, which resulted in a frameshift mutation in amino acids (p.G26Afs * 74). No such mutation was discovered, and the parents' phenotypic was normal. The proband's reduced expression of SOX10, PAX3, and MITF proteins was discovered by flow cytometry detection.Ultimately, we think that this research has found a new case of SOX10 mutation, which is a spontaneous mutation in the patient and preliminarily identified as the cause of the disease. This mutation enriches the mutation spectrum of SOX10.


Inner ear deformity, SOX10, Hearing impairment, Waardenburg

Cite This Paper

Li Xia, Zhao Heng, Ma Xiuli, Ding Chaohong, Ma Jing. Genotype and phenotype analysis of a family with Waardenburg syndrome type Ⅱ caused by a de novo mutation in SOX10 gene. Frontiers in Medical Science Research (2024), Vol. 6, Issue 4: 11-19. https://doi.org/10.25236/FMSR.2024.060402.


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