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Ectodermal dysplasia,
Odonto-onycho-dermal dysplasia (OODD),
Schöpf-Schulz-Passarge Syndrome (SSPS)
WNT10A (Wingless-Type MMTV Integration Site Family, Member 10A)
A broad spectrum of clinical features has been found in ectodermal dysplasia patients who are compound heterozygous or homozygous for mutations in the WNT10A gene, with the most consistent clinical feature being severe oligodontia of permanent teeth. Other common features include: dry skin, nail dystrophy, abnormal teeth, sparse hair, and hypohidrosis or hyperhidrosis. Palmoplantar keratoderma, erythematous lesions of the face, and photophobia have also been observed. Approximately 50% of heterozygotes carrying a WNT10A mutation have mild clinical symptoms of ectodermal dysplasia, including abnormal teeth and nails.
SSPS is a rare disorder characterized by hidrocystomas (eyelid cysts) in association with other findings of ectodermal dysplasia.
Mutations in the WNT10A gene have been reported in up to 9% of individuals with ectodermal dysplasia and in 25% of individuals with hypohidrotic ectodermal dysplasia who do not have a mutation in the EDA1 gene. WNT10A testing is performed by bi-directional sequence analysis of the entire coding region (exons 1-4) and splice sites of the WNT10A gene. The presence of a disease-causing mutation is confirmed by another molecular method, such as sequencing, heteroduplex or restriction fragment analysis.
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Consent Document
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