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

Cynthia Wang, Eugene Kim, Ali Attaie, Tenesha N. Smith, Edward R. Wilcox, Anil K. Lalwani

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

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.

Original languageEnglish
Pages (from-to)55-57
Number of pages3
JournalMolecular and Cellular Probes
Volume12
Issue number1
DOIs
StatePublished - Feb 1998
Externally publishedYes

Keywords

  • Amplification-refractory mutation system (ARMS)
  • Deafness
  • Microphthalmia-associated transcription factor (MITF)
  • PAX3
  • Transcription factor
  • Waardenburg Syndrome

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