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
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