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A Novel PAX3 Mutation in a Chinese Family with Waardenburg Syndrome Type 1.

Abstract：

: Aims: To determine the clinical characteristics and genetic cause of Waardenburg syndrome type 1 (WS1) in a Chinese family. Materials and Methods: Evaluations, including history, clinical features, and audiological tests, were performed on the proband and her parents. Genetic analyses were performed targeting 144 known deafness genes using a next-generation sequencing panel. Bioinformatic analyses were used to analyze the candidate mutation. Results: The proband and her parents suffered from congenital bilateral profound hearing loss. Her mother exhibited bilateral blue irides. WS1 was diagnosed in the proband and her mother according to the Waardenburg syndrome consortium criteria: the calculated W index of the proband was 2.39 and that of her mother was 2.31. A novel mutation c.1076_1077del (p.Thr359fs) in exon 7 of the PAX3 gene (paired box 3) was identified in the proband and her mother that was absent in the father and controls. Conclusion: Mutations in exon 7 of the PAX3 gene are rare. We identified a novel frameshift mutation in exon 7 of the PAX3 gene that we determined was responsible for WS1 in this family.

journal_name

Genet Test Mol Biomarkers

journal_title

Genetic testing and molecular biomarkers

authors

Li S,Guo M,Ruan B,Liu Y,Cui X,Han W,Li R

doi

10.1089/gtmb.2019.0231

subject

Has Abstract

pub_date

2020-05-01 00:00:00

pages

249-255

issue

5

eissn

1945-0265

issn

1945-0257

journal_volume

24

pub_type

杂志文章

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