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INTERNATIONAL JOURNAL OF PHARMACEUTICAL RESEARCH

A Step Towards Excellence
Published by : Advanced Scientific Research
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0975-2366
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IJPR 9[3] July - September 2017 Special Issue

July - September 9[3] 2017

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Pax Gene Mutations Associated With Cleft Lip And Cleft Palate

Author: SUDARSAN R, J.VIJAYASHREE PRIYADHARSINI, ANJANEYULU K
Abstract: Orofacial clefts and tooth agenesis are two of the most common craniofacial birth defects. Both of them share similarities in their complex etiology, with genetic and environmental factors involved. In addition, the epigenetic modifications have been associated with the pathogenesis of these structural malformations. Orofacial clefts are commonly occuring birth defects which can occur either as isolated, nonsyndromic events or as a part of syndromes. There is substantial evidence of phenotypic diversity in individuals with these abnormalities and their family members, including subclinical phenotypes and associated syndromic features that is mirrored by the many genes that contribute to the etiology of these malformations. Identifying these genes and loci has been the result of decades of research using multiple genetic approaches that help narrow down and better understand the genetic basis of development of such defects. The Pax gene family encodes a group of transcription factors that have been conserved through millions of years of evolution and play roles in early development. Pax proteins have been implicated as regulators of organogenesis and are key factors in maintaining pluripotency of stem cell populations during development. Mutations of the Pax genes cause profound developmental defects in organisms as diverse as flies, mice and humans. A number of studies have reported the involvement of Pax genes with orofacial clefts and tooth agenesis. This study summarizes the various mutations in the Pax gene family and its association in the development of cleft lip and palate.
Keyword: Cleft lip; Cleft palate; Mutations; Pax gene
DOI: https://doi.org/10.31838/ijpr/2021.13.01.273
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