Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
A four generation family (UoM1) was ascertained with Waardenburg syndrome type 1 (WS1). The proband exhibited both WS1 and septo-optic dysplasia. A G to C transversion was identified in PAX3 exon 7 in four subjects affected with WS1 in this family including the proband. This glutamine to histidine missense mutation at position 391 may also affect splicing. There are over 50 mutations characterised in PAX3 in WS1 patients; however, this is the first example of a WS1 mutation in exon 7 of PAX3.
Carey
M L
ML
Department of Zoology, Michigan State University, East Lansing 48824, USA.
Friedman
T B
TB
Asher
J H
JH
Innis
J W
JW
D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation; D009898:Optic Disk / Q000002:abnormalities*; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012688:Septum Pellucidum / Q000002:abnormalities*; D014157:Transcription Factors; D014849:Waardenburg Syndrome / Q000145:classification / Q000235:genetics*
D004268:DNA-Binding Proteins; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D014157:Transcription Factors; C068686:Pax3 protein, mouse