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Article

Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I.

Gene - 5 Feb 2018

Niu Zhijie, Li Jiada, Tang Fen, Sun Jie, Wang Xueping, Jiang Lu, Mei Lingyun, Chen Hongsheng, Liu Yalan, Cai Xinzhang, Feng Yong, He Chufeng

Abstract excerpt

Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant genetic disorder of neural crest cells (NCC) characterized by congenital sensorineural hearing loss, dystopia canthorum, and abnormal iris pigmentation. WS1 is due to loss-of-function mutations in paired box gene 3 (PAX3). Here, we identified a novel PAX3 mutation (c.808C>G, p.R270G) in a three-generation Chinese family with WS1, and then analyzed its...

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Source

Identifiers

PMID: 29158168
DOI: 10.1016/j.gene.2017.11.035

Genes

PAX3
MITF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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