Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1.
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.
Morell
R
R
Department of Zoology, Michigan State University, East Lansing 48824-1115, USA.
Carey
M L
ML
Lalwani
A K
AK
Friedman
T B
TB
Asher
J H
JH
D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D005801:Genes, Homeobox / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D014849:Waardenburg Syndrome / Q000235:genetics*