Mutation in SAM Domain of TP63 is Associated With Nonsyndromic Cleft Lip and Palate and Cleft Palate

被引：12

作者：

Kantaputra, Piranit N. ^{[1
,2
,3
]}

Malaivijitnond, Sutti ^{[4
]}

Vieira, Alexandre R. ^{[5
]}

Heering, Jan ^{[6
,7
]}

Doetsch, Volker ^{[6
,7
]}

Khankasikum, Theerapong ^{[8
]}

Sripathomsawat, Warissara ^{[1
,2
,3
]}

机构：

[1] Chiang Mai Univ, Div Pediat Dent, Dept Orthodont & Pediat Dent, Chiang Mai 50200, Thailand

[2] Chiang Mai Univ, Fac Dent, Craniofacial Genet Lab, Chiang Mai 50200, Thailand

[3] Dentaland Clin, Chiang Mai, Thailand

[4] Nan Hosp, Dept Dent, Nan, Thailand

[5] Univ Pittsburgh, Sch Dent Med, Dept Oral Biol, Pittsburgh, PA USA

[6] Goethe Univ Frankfurt, Inst Biophys Chem, Frankfurt, Germany

[7] Goethe Univ Frankfurt, Ctr Biomol Magnet Resonance, Frankfurt, Germany

[8] Mae Sod Hosp, Dept Dent, Tak, Thailand

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 06期

关键词：

TP63; sterile alpha motif; mutation; sumoylation; SAM domain; orofacial cleft; ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome; Rapp-Hodgkin syndrome; EEC syndrome; HAY-WELLS-SYNDROME; EEC-SYNDROME; P63; GENE; PROTEIN; MECHANISM; SUMO1;

D O I：

10.1002/ajmg.a.34011

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 mutation (p.Asp564His) in TP63 that predisposed the patients to have nonsyndromic cleft palate and nonsyndromic cleft lip and palate. (C) 2011 Wiley-Liss, Inc.

引用

页码：1432 / 1436

页数：5

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