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

ABSTRACT:

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 co-immunoprecipitation (CO-IP) were conducted to verify potential functional outcomes of the novel mutations.

Results

The first proband is a 9 years old girl diagnosed with WS I. A novel PAX3 heterozygous mutation of c.372-373delGA (p.N125fs) was identified, which results in a frameshift and truncation of PAX3 protein. In family II, a 2 years old girl was diagnosed

SUBMITTER: Yu Y 

PROVIDER: S-EPMC7216796 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature