Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1.

Abstract

Genomic DNA from probands of various Waardenburg syndrome (WS) families were PCR-amplified using primers flanking the 8 exons of PAX3. The PCR fragments were screened for sequence variants, and subsequently cycle sequenced. Mutations were detected in exon 6 for 3 probands of WS type 1 families. These mutations all occur in the paired homeodomain DNA-binding motif.

• Authors: R Morell, M L Carey, A K Lalwani, T B Friedman, J H Asher Jr
• Journal: Human heredity (Hum Hered) 1997 Jan-Feb Vol. 47 Issue 1 Pg. 38-41 ISSN: 0001-5652 [Print] Switzerland
• PMID: 9017978 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)

Topics

• Exons (genetics)
• Female
• Frameshift Mutation (genetics)
• Genes, Homeobox (genetics)
• Humans
• Male
• Pedigree
• Waardenburg Syndrome (genetics)