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CC BY 4.0 · Glob Med Genet 2020; 07(04): 101-108
DOI: 10.1055/s-0041-1722951
Review Article

Genetic Factors in Nonsyndromic Orofacial Clefts

Mahamad Irfanulla Khan 
1   Department of Orthodontics & Dentofacial Orthopedics, The Oxford Dental College, Bangalore, Karnataka, India
,
Prashanth CS 
2   Department of Orthodontics & Dentofacial Orthopedics, DAPM R.V. Dental College, Bangalore, Karnataka, India
,
Narasimha Murthy Srinath 
3   Department of Oral & Maxillofacial Surgery, Krishnadevaraya College of Dental Sciences, Bangalore, Karnataka, India
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Abstract

Orofacial clefts (OFCs) are the most common congenital birth defects in humans and immediately recognized at birth. The etiology remains complex and poorly understood and seems to result from multiple genetic and environmental factors along with gene–environment interactions. It can be classified into syndromic (30%) and nonsyndromic (70%) clefts. Nonsyndromic OFCs include clefts without any additional physical or cognitive deficits. Recently, various genetic approaches, such as genome-wide association studies (GWAS), candidate gene association studies, and linkage analysis, have identified multiple genes involved in the etiology of OFCs.

This article provides an insight into the multiple genes involved in the etiology of OFCs. Identification of specific genetic causes of clefts helps in a better understanding of the molecular pathogenesis of OFC. In the near future, it helps to provide a more accurate diagnosis, genetic counseling, personalized medicine for better clinical care, and prevention of OFCs.

Keywords

orofacial clefts - nonsyndromic - genetics - gene mutation - genome-wide association study - linkage analysis


Publication History

Article published online:
12 February 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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