Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
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ABSTRACT:
SUBMITTER: Carey ML
PROVIDER: S-EPMC1051252 | biostudies-other | 1998 Mar
REPOSITORIES: biostudies-other
Publications
Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
Carey M L ML Friedman T B TB Asher J H JH Innis J W JW
Journal of medical genetics 19980301 3
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. ...[more]
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