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Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome.

Molecular genetics & genomic medicine - 1 May 2020

Yu Yongbo, Liu Wei, Chen Min, Yang Yang, Yang Yeran, Hong Enyu, Lu Jie, Zheng Jun, Ni Xin, Guo Yongli, Zhang Jie

Abstract excerpt

BACKGROUND: The objective of this study was to investigate the genetic causes of two probands diagnosed as Waardenburg syndrome (WS type I and IV) from two unrelated Chinese families. METHODS: PAX3 and SOX10 were the main pathogenic genes for WS type I (WS I) and IV (WS IV), respectively; all coding exons of these genes were sequenced on the two probands and their family members. Luciferase reporter assay and...

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Identifiers

PMID: 32168437
DOI: 10.1002/mgg3.1217
PMCID: PMC7216796

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