A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I

ConclusionThe novel heterozygous c.420 ‐424de1CGCGGinsTTAC mutation is the molecular pathological cause for WS1 in our patient. The clinical and genetic characterization of this family with WS1 elucidated the genetic heterogeneity ofPAX3 in WS1. Moreover, the mutation detected in this case has expanded the database ofPAX3 mutations.

Source: Molecular Genetics & Genomic Medicine - June 11, 2019 Category: Genetics & Stem Cells Authors: Jing Ma, Ken Lin, Hong ‐chao Jiang, Yanli Yang, Yu Zhang, Guilian Yang, Hao Sun, Cheng Ming, Xianyun Bi, Tiesong Zhang, Biao Ruan Tags: ORIGINAL ARTICLE Source Type: research