Genetic etiology of cleft lip and cleft palate

被引:10
作者
Khan, A. N. Mahamad Irfanulla [1 ]
Prashanth, C. S. [2 ]
Srinath, N. [3 ]
机构
[1] Oxford Dent Coll, Dept Orthodont & Dentofacial Orthoped, Bangalore, Karnataka, India
[2] DAPM RV Dent Coll, Dept Orthodont & Dentofacial Orthoped, Bangalore, Karnataka, India
[3] Krishnadevaraya Coll Dent Sci, Dept Oral & Maxillofacial Surg, Bangalore, Karnataka, India
来源
AIMS MOLECULAR SCIENCE | 2020年 / 7卷 / 04期
关键词
cleft lip; cleft palate; genetics; candidate genes; molecular biology; mutations; genome-wide association study; GENOME-WIDE ASSOCIATION; NONSYNDROMIC OROFACIAL CLEFT; GROWTH-FACTOR-ALPHA; CASE-PARENT TRIOS; FACIAL CLEFTS; ORAL CLEFTS; CONGENITAL HYPOTHYROIDISM; MENTAL-RETARDATION; BIRTH PREVALENCE; MATERNAL SMOKING;
D O I
10.3934/molsci.2020016
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Genetic studies in humans have demonstrated that Cleft lip with or without cleft palate (CL/P) have a diverse genetic background and probably environmental factors influencing these malformations. CL/P is one of the most common congenital birth defects in the craniofacial region with complex etiology involving multiple genetic factors, environmental factors and gene-environment interaction. Children born with these defects suffer from various difficulties such as difficulty in speech, hearing, feeding and other psychosocial problems, and their rehabilitation involves a multidisciplinary approach. The article describes the brief introduction of CL/P, epidemiology and general concepts, etiological factors, and the genes implicated in the etiology of nonsyndromic CL/P (NSCL/P) as suggested by different human genetic studies, animal models, and other expression studies.
引用
收藏
页码:328 / 348
页数:21
相关论文
共 170 条
[11]  
BURDICK AB, 1986, J CRAN GENET DEV BIO, P99
[12]   Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in PAX7 and VAX1 in the Etiology of Nonsyndromic CL(P) [J].
Butali, Azeez ;
Suzuki, Satoshi ;
Cooper, Margaret E. ;
Mansilla, Adela M. ;
Cuenco, Karen ;
Leslie, Elizabeth J. ;
Suzuki, Yasushi ;
Niimi, Teruyuki ;
Yamamoto, Masahiko ;
Ayanga, Gongorjav ;
Erkhembaatar, Tudevdorj ;
Furukawa, Hiroo ;
Fujiwawa, Kumiko ;
Imura, Hideto ;
Petrin, Aline L. ;
Natsume, Nagato ;
Beaty, Terri H. ;
Marazita, Mary L. ;
Murray, Jeffery C. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (05) :965-972
[13]   Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing [J].
Carlson, Jenna C. ;
Taub, Margaret A. ;
Feingold, Eleanor ;
Beaty, Terri H. ;
Murray, Jeffrey C. ;
Marazita, Mary L. ;
Leslie, Elizabeth J. .
BIRTH DEFECTS RESEARCH, 2017, 109 (13) :1030-1038
[14]   Wnt9b plays a central role in the regulation of mesenchymal to epithelial transitions underlying organogenesis of the mammalian urogenital system [J].
Carroll, TJ ;
Park, JS ;
Hayashi, S ;
Majumdar, A ;
McMahon, AP .
DEVELOPMENTAL CELL, 2005, 9 (02) :283-292
[15]   Testing Reported Associations of Genetic Risk Factors for Oral Clefts in a Large Irish Study Population [J].
Carter, Tonia C. ;
Molloy, Anne M. ;
Pangilinan, Faith ;
Troendle, James F. ;
Kirke, Peadar N. ;
Conley, Mary R. ;
Orr, David J. A. ;
Earley, Michael ;
McKiernan, Eamon ;
Lynn, Ena C. ;
Doyle, Anne ;
Scott, John M. ;
Brody, Lawrence C. ;
Mills, James L. .
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2010, 88 (02) :84-93
[16]   A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate [J].
Castanet, M ;
Park, SM ;
Smith, A ;
Bost, M ;
Léger, J ;
Lyonnet, S ;
Pelet, A ;
Czernichow, P ;
Chatterjee, K ;
Polak, M .
HUMAN MOLECULAR GENETICS, 2002, 11 (17) :2051-2059
[17]   Transforming Growth Factor Alpha Taq I Polymorphisms and Nonsyndromic Cleft Lip and/or Palate Risk: A Meta-Analysis [J].
Chen Yan ;
He Deng-qi ;
Chen Li-ya ;
Yang Mang ;
Yang Ke-hu .
CLEFT PALATE-CRANIOFACIAL JOURNAL, 2018, 55 (06) :814-820
[18]   Interaction between the ADH1C polymorphism and maternal alcohol intake in the risk of nonsyndromic oral clefts: An evaluation of the contribution of child and maternal genotypes [J].
Chevrier, C ;
Perret, C ;
Bahuau, M ;
Nelva, A ;
Herman, C ;
Francannet, C ;
Robert-Gnansia, E ;
Cordier, S .
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2005, 73 (02) :114-122
[19]  
CHING GHS, 1974, AM J HUM GENET, V26, P162
[20]   Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate [J].
Chiquet, Brett T. ;
Blanton, Susan H. ;
Burt, Amber ;
Ma, Deqiong ;
Stal, Samuel ;
Mulliken, John B. ;
Hecht, Jacqueline T. .
HUMAN MOLECULAR GENETICS, 2008, 17 (14) :2212-2218