Annotation Detail
Information
- Associated Genes
- WNT10A
- Associated Variants
-
WNT10A p.Arg128Gln (p.R128Q)
(
ENST00000258411.8 )
WNT10A p.Phe228Ile (p.F228I) ( ENST00000258411.8 )
WNT10A p.Arg128Gln (p.R128Q) ( ENST00000258411.8 )
WNT10A p.Phe228Ile (p.F228I) ( ENST00000258411.8 ) - Associated Disease
- Odontoonychodermal dysplasia
- Source Database
- DisGeNET
- Description
- In this study, we show that (1) WNT10A mutations cause not only OODD but also other forms of ectodermal dysplasia, reaching from apparently monosymptomatic severe oligodontia to Schöpf-Schulz-Passarge syndrome, which is so far considered a unique entity by the findings of numerous cysts along eyelid margins and the increased risk of benign and malignant skin tumors; (2) WNT10A mutations are a frequent cause of ectodermal dysplasia and were found in about 9% of an unselected patient cohort; (3) about half of the heterozygotes (53.8%) show a phenotype manifestation, including mainly tooth and nail anomalies, which was not reported before in OODD; and (4) heterozygotes show a sex-biased manifestation pattern, with a significantly higher proportion of tooth anomalies in males than in females, which may implicate gender-specific differences of WNT10A expression.
- Pubmed
- 19559398
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2009
Drugs