Cleft lip and palate: understanding genetic and environmental influences

被引：1305

作者：

Dixon, Michael J. ^{[3
]}

Marazita, Mary L. ^{[4
]}

Beaty, Terri H. ^{[5
]}

Murray, Jeffrey C. ^{[1
,2
]}

机构：

[1] Univ Iowa, Dept Pediat Biol, Iowa City, IA 52242 USA

[2] Univ Iowa, Dept Epidemiol, Iowa City, IA 52242 USA

[3] Univ Manchester, Fac Med & Human Sci, Manchester Acad Hlth Sci Ctr, Manchester M13 9PT, Lancs, England

[4] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet,Sch Dent Med, Ctr Craniofacial & Dent Genet,Dept Oral Biol, Pittsburgh, PA USA

[5] Johns Hopkins Univ, Dept Epidemiol, Sch Publ Hlth, Baltimore, MD 21205 USA

来源：

NATURE REVIEWS GENETICS | 2011年 / 12卷 / 03期

基金：

英国惠康基金; 美国国家卫生研究院; 英国医学研究理事会;

关键词：

ORBICULARIS-ORIS MUSCLE; MATERNAL ALCOHOL-CONSUMPTION; ORAL CLEFTS; OROFACIAL CLEFTS; CANDIDATE GENES; FOLIC-ACID; AND/OR PALATE; BIRTH-DEFECTS; UNAFFECTED RELATIVES; VARIANTS CONTRIBUTE;

D O I：

10.1038/nrg2933

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. CLP can occur in isolation or as part of a broad range of chromosomal, Mendelian or teratogenic syndromes. Although there has been marked progress in identifying genetic and environmental triggers for syndromic CLP, the aetiology of the more common non-syndromic (isolated) forms remains poorly characterized. Recently, using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CLP. These findings have advanced our understanding of developmental biology and created new opportunities for clinical translational research.

引用

页码：167 / 178

页数：12

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