Hay-Wells syndrome in a child with mutation in the TP73L gene.

Abstract

Hay-Wells syndrome is a rare form of ectodermal dysplasia, also known as AEC syndrome (Ankyloblepharon filiforme adnatum, Ectodermal effects, Cleft lip/palate). It is inherited in an autosomal dominant fashion with variable expression, featuring congenital abnormalities of skin, hair, teeth, nail, eccrine and mucous glands. We present a three-month-old boy, born to unaffected parents, with typical clinical findings of AEC syndrome. In this boy, a mutation Ile537Thr (c.1610C>T) in the sterile alpha motive (SAM) domain of the TP73L (p63) gene was detected. Because of the broad spectrum of related syndromes such as Rapp-Hodgkin syndrome, Bowen-Armstrong syndrome, CHAND syndrome and epidermolysis bullosa hereditaria, the diagnosis of AEC should be base don both clinical findings and genetic analysis.

• Authors: Natalie Garcia Bartels, Luitgard M Neumann, Anna Mleczko, Katharina Rubach, Hartmut Peters, Rainer Rossi, Wolfram Sterry, Ulrike Blume-Peytavi
• Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG (J Dtsch Dermatol Ges) Vol. 5 Issue 10 Pg. 919-23 (Oct 2007) ISSN: 1610-0387 [Electronic] Germany
• PMID: 17910675 (Publication Type: Case Reports, Journal Article)

Chemical References

• DNA-Binding Proteins
• TP63 protein, human
• Trans-Activators
• Transcription Factors
• Tumor Suppressor Proteins

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Cleft Lip (diagnosis, genetics)
• Cleft Palate (diagnosis, genetics)
• DNA-Binding Proteins (genetics)
• Ectodermal Dysplasia (diagnosis, genetics)
• Genetic Predisposition to Disease (genetics)
• Humans
• Infant
• Male
• Mutation
• Syndrome
• Trans-Activators (genetics)
• Transcription Factors
• Tumor Suppressor Proteins (genetics)