Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Research Abstract Details 

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Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Abstract Text:

Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or cleft palate. This constellation of clinical signs is unique, but some overlap can be recognized with other ectodermal dysplasia syndromes, for example ectrodactyly--ectodermal dysplasia--cleft lip/palate (EEC; OMIM 604292), limb--mammary syndrome (LMS; OMIM 603543), acro-dermato-ungual-lacrimal-tooth syndrome (ADULT; OMIM 103285) and recessive cleft lip/palate--ectodermal dysplasia (CLPED1; OMIM 225060). We have recently demonstrated that heterozygous mutations in the p63 gene are the major cause of EEC syndrome. Linkage studies suggest that the related LMS and ADULT syndromes are also caused by mutations in the p63 gene. Thus, it appears that p63 gene mutations have highly pleiotropic effects. We have analysed p63 in AEC syndrome patients and identified missense mutations in eight families. All mutations give rise to amino acid substitutions in the sterile alpha motif (SAM) domain, and are predicted to affect protein--protein interactions. In contrast, the vast majority of the mutations found in EEC syndrome are amino acid substitutions in the DNA-binding domain. Thus, a clear genotype--phenotype correlation can be recognized for EEC and AEC syndromes.

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Publishing Authors By Initials

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Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Journal Published:

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: Human molecular genetics

VOLUME: 10

Page Numbers: 221-9

Journal Abbreviation: Hum. Mol. Genet.

ISSN: 0964-6906

DAY: 1

MONTH: Feb

YEAR: 2001

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Information

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LANGUAGE: eng

NlmUniqueID: 9208958

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Keywords Mesh Terms:

KEYWORDS: Tumor Suppressor Proteins

MESH TERMS: pathology

Chemical & Substance for Abstract: Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Information

Substance Name: DNA

Registry Number: 9007-49-2

Grant and Affiliation Information for Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.

AFFILIATION: Department of Cell and Molecular Pathology, St John's Institute of Dermatology, The Guy's, King's College and St Thomas' Hospitals' Medical School, St Thomas' Hospital, Lambeth Palace Road, London SE1 7EH, UK.

Country: England

AGENCY: United States NIGMS

GRANT: GM08284

ACRONYM: GM

MEDLINETA: Hum Mol Genet

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ACCESSION NUMBER: 604292

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Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63 Related Publications

• A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
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• Glyc-O-genetics of Walker-Warburg syndrome.
• Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
• Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
• Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
• Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.
• The p63 gene in EEC and other syndromes.