A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2 (WS2)

被引：10

作者：

Wang, C ^{[1
]}

Kim, E ^{[1
]}

Attaie, A ^{[1
]}

Smith, TN ^{[1
]}

Wilcox, ER ^{[1
]}

Lalwani, AK ^{[1
]}

机构：

[1] Univ Calif San Francisco, Dept Otolaryngol Head & Neck Surg, Div Otol Neurotol & Skull Base Surg, Epstein Labs,Lab Mol Otol, San Francisco, CA 94143 USA

来源：

MOLECULAR AND CELLULAR PROBES | 1998年 / 12卷 / 01期

关键词：

Waardenburg Syndrome; PAX3; microphthalmia-associated transcription factor (MITF); amplification-refractory mutation system (ARMS); transcription factor; deafness;

D O I：

10.1006/mcpr.1997.0149

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

Waardenburg Syndrome (WS) is an autosomal-dominant disorder phenotypically characterized by sensorineural hearing loss and pigmentary disturbances. Presence of dystopia canthorum is indicative of WS type 1 and results from defects in the PAX3 gene, whereas normally located medial canthi is characteristic of type 2 WS (WS2) and is associated with defects in the microphthalmia-associated transcription factor (MIFT) gene. Here a neutral polymorphism is reported in the PAX3 gene (T315K) in a family with WS2. (C) 1998 Academic Press Limited.

引用

页码：55 / 57

页数：3

共 9 条

[1] AN EXONIC MUTATION IN THE HUP2 PAIRED DOMAIN GENE CAUSES WAARDENBURG SYNDROME [J].