PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1.

ABSTRACT:

Purpose

To detect paired box gene 3 (PAX3) mutations and associated phenotypes in Chinese patients with Waardenburg syndrome type 1 (WS1).

Methods

Five unrelated families with suspected WS1 were selected from our Genomic DNA Repository for Hereditary Eye Diseases. The coding and adjacent intronic regions of PAX3 were amplified by polymerase chain reaction and the amplicons were then analyzed by cycle sequencing. Variations detected were further evaluated in available family members as well as one hundred controls with heteroduplex-single strand conformational polymorphism (heteroduplex-SSCP) analysis and/or clone sequencing.

Results

Three novel and two known mutations in PAX3 were detected in five patients, respectively: c.567_586+17del (p.Asp189_Gln505delinsGluGlyGly

SUBMITTER: Wang J 

PROVIDER: S-EPMC2901192 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature