ADULT syndrome due to an R243W mutation in TP63.

Abstract

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare, autosomal dominant form of ectodermal dysplasia due to TP63 mutations. ADULT syndrome is much less common than the more classical forms of TP63-associated ectodermal dysplasias, such as ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome. ADULT syndrome is characterized by ectrodactyly, syndactyly, and excessive freckling, in addition to more typical ectodermal defects, including hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Unlike some of the other TP63-associated ectodermal dysplasias, ADULT syndrome lacks clefting and ankyloblepharon. Here, we report a three-generation family with ADULT syndrome due to an R243W mutation in TP63, a mutation that has previously been described in one patient with ADULT syndrome and eight unrelated patients with EEC syndrome.

• Authors: David R Berk, Nicole L Armstrong, Marwan Shinawi, Alison J Whelan
• Journal: International journal of dermatology (Int J Dermatol) Vol. 51 Issue 6 Pg. 693-6 (Jun 2012) ISSN: 1365-4632 [Electronic] England
• PMID: 22607287 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2012 The International Society of Dermatology.

Chemical References

• TP63 protein, human
• Transcription Factors
• Tumor Suppressor Proteins

Topics

• Anodontia (genetics)
• Black People
• Breast (abnormalities)
• Child
• Ectodermal Dysplasia (genetics)
• Exons
• Female
• Humans
• Lacrimal Duct Obstruction (genetics)
• Limb Deformities, Congenital (genetics)
• Mutation
• Nails, Malformed (genetics)
• Pigmentation Disorders (genetics)
• Transcription Factors (genetics)
• Tumor Suppressor Proteins (genetics)