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

C Wang; E Kim; A Attaie; T N Smith; E R Wilcox; A K Lalwani

doi:10.1006/mcpr.1997.0149

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

Mol Cell Probes. 1998 Feb;12(1):55-7. doi: 10.1006/mcpr.1997.0149.

Authors

C Wang¹, E Kim, A Attaie, T N Smith, E R Wilcox, A K Lalwani

Affiliation

¹ Laboratory of Molecular Otology, Epstein Laboratories, Department of Otolaryngology - Head & Neck Surgery, University of California San Francisco, CA, USA.

PMID: 9584079
DOI: 10.1006/mcpr.1997.0149

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
California
DNA-Binding Proteins / genetics*
Family
Humans
India / ethnology
PAX3 Transcription Factor
Paired Box Transcription Factors
Point Mutation
Polymerase Chain Reaction / methods
Polymorphism, Genetic*
Polymorphism, Single-Stranded Conformational
Transcription Factors*
Waardenburg Syndrome / classification
Waardenburg Syndrome / genetics*

Substances

DNA-Binding Proteins
PAX3 Transcription Factor
PAX3 protein, human
Paired Box Transcription Factors
Transcription Factors
Pax3 protein, mouse