A Novel Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type IV
Release date:
2023-03-25
Description:
We report a case diagnosed with WS type 4 that presented with abnormal iris pigmentation, congenital megacolon, and sensorineural deafness. Whole exome sequencing (WES) and Sanger sequencing of the patient verified a c.452_456dup heterozygous mutation in exon 3 of the SOX10 gene, which, based on nucleotide and amino acid sequence-based analysis, this mutation may produce truncated proteins that contribute to the development of the disease. Our results widen the database of SOX10 gene mutations associated with WS and provide more favorable information for diagnosing clinical diseases.
Organization: Luoyang Maternal and Child Health Hospital
Submission date: 2023-03-24
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