A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts

Birth Defects Research. Part A, Clinical and Molecular Teratology
Samuel G YounkinIngo Ruczinski

Abstract

DNA copy number variants play an important part in the development of common birth defects such as oral clefts. Individual patients with multiple birth defects (including oral clefts) have been shown to carry small and large chromosomal deletions. We investigated the role of polymorphic copy number deletions by comparing transmission rates of deletions from parents to offspring in case-parent trios of European ancestry ascertained through a cleft proband with trios ascertained through a normal offspring. DNA copy numbers in trios were called using the joint hidden Markov model in the freely available PennCNV software. All statistical analyses were performed using Bioconductor tools in the open source environment R. We identified a 67 kb region in the gene MGAM on chromosome 7q34, and a 206 kb region overlapping genes ADAM3A and ADAM5 on chromosome 8p11, where deletions are more frequently transmitted to cleft offspring than control offspring. These genes or nearby regulatory elements may be involved in the etiology of oral clefts.

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Citations

Jul 8, 2016·Birth Defects Research. Part A, Clinical and Molecular Teratology·Johanna KlamtKerstin U Ludwig
Jan 25, 2017·Molecular Genetics & Genomic Medicine·Wasiu L Adeyemo, Azeez Butali
Nov 18, 2021·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Anubhuti SoodDeepika Mishra

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Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.