Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families

ConclusionNeither of these candidate genes has previously been associated with oral clefts and, if confirmed as contributing to disease risk, may indicate novel biological pathways in the genetic etiology for oral clefts.

Nonsyndromic oral clefts are craniofacial malformations, which include cleft lip with or without cleft palate. The etiology for oral clefts is complex with both genetic and environmental factors contributing to risk. In this study, we analyze whole exome and whole genome sequence data to identify enrichment of nonsynonymous and potentially damaging rare variants in two genes: CASP9 and FAT4.

Source: Molecular Genetics & Genomic Medicine - July 1, 2017 Category: Genetics & Stem Cells Authors: Emily R. Holzinger, Qing Li, Margaret M. Parker, Jacqueline B. Hetmanski, Mary L. Marazita, Elisabeth Mangold, Kerstin U. Ludwig, Margaret A. Taub, Ferdouse Begum, Jeffrey C. Murray, Hasan Albacha ‐Hejazi, Khalid Alqosayer, Giath Al‐Souki, Abdullatiff Tags: Original Article Source Type: research