Literature DB >> 33693442

Genetic Factors in Nonsyndromic Orofacial Clefts.

Mahamad Irfanulla Khan1, Prashanth Cs2, Narasimha Murthy Srinath3.   

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. 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/ ).

Entities:  

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

Year:  2021        PMID: 33693442      PMCID: PMC7938794          DOI: 10.1055/s-0041-1722951

Source DB:  PubMed          Journal:  Glob Med Genet        ISSN: 2699-9404


  3 in total

1.  Role of PAX7 Gene rs766325 and rs4920520 Polymorphisms in the Etiology of Non-syndromic Cleft Lip and Palate: A Genetic Study.

Authors:  Mahamad Irfanulla Khan; Prashanth Cs; Narasimhamurty Srinath
Journal:  Glob Med Genet       Date:  2022-07-15

2.  PAX7, PAX9 and RYK Expression in Cleft Affected Tissue.

Authors:  Mārtiņš Vaivads; Ilze Akota; Māra Pilmane
Journal:  Medicina (Kaunas)       Date:  2021-10-08       Impact factor: 2.430

Review 3.  Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.

Authors:  Anna Jaruga; Jakub Ksiazkiewicz; Krystian Kuzniarz; Przemko Tylzanowski
Journal:  Int J Mol Sci       Date:  2022-01-16       Impact factor: 5.923

  3 in total

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