Impact of MSX1 and IRF6 Gene Variants on Orofacial Cleft and Facial Development

Impact of MSX1 and IRF6 Gene Variants on Orofacial Cleft and Facial Development

Elaine Vanterpool, Oakwood University
Lia Banks, Oakwood University

Description

A cleft lip or palate is a congenital anomaly that occurs when a baby's mouth doesn’t form properly during pregnancy. It happens when the tissues that shape the upper lip or roof of the mouth fail to join during development. It is among the most common birth defects associated with genetic conditions or syndromes. Orofacial cleft can be caused by a combination of genes and other factors like the mother's exposure to environmental things, diet, and medications during pregnancy. Examining the genes involved and making connections that provide insight into the improper formations of the maxillary tissues during fetal stages is crucial. This study used Simple Clinvar, Uniprot, Polyphen 2, SIFT, and SWISS Modeling to identify and analyze mutations.