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Article

Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate.

American journal of medical genetics. Part A - 1 Jun 2011

Kantaputra Piranit N, Malaivijitnond Sutti, Vieira Alexandre R, Heering Jan, Dötsch Volker, Khankasikum Theerapong, Sripathomsawat Warissara

Abstract excerpt

Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. SAM domain, a protein-protein interaction module, is found in cytoplasmic signaling proteins and several transcriptional regulatory proteins which are involved in development and differentiation. Here, we report on a SAM domain...

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PMID: 21567929
DOI: 10.1002/ajmg.a.34011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate.PMID 21567929Read ↗

Heterozygous Mutation in the SAM Domain of p63 Underlies Rapp-Hodgkin Ectodermal DysplasiaSemantic proximity Read ↗

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AEC syndrome caused by heterozygous mutation in the SAM domain of p63 gene.Semantic proximity Read ↗

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Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).Semantic proximity Read ↗

Hay-Wells syndrome in a child with mutation in the TP73L gene.Semantic proximity Read ↗

A novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon.Semantic proximity Read ↗

AEC-associated p63 mutations lead to alternative splicing/protein stabilization of p63 and modulation of Notch signaling.Semantic proximity Read ↗

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Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.Semantic proximity Read ↗

An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology.Semantic proximity Read ↗

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