Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts.

ABSTRACT: A dozen genes/regions have been confirmed as genetic risk factors for oral clefts in human association and linkage studies, and animal models argue even more genes may be involved. Genomic sequencing studies should identify specific causal variants and may reveal additional genes as influencing risk to oral clefts, which have a complex and heterogeneous etiology. We conducted a whole exome sequencing (WES) study to search for potentially causal variants using affected relatives drawn from multiplex cleft families. Two or three affected second, third, and higher degree relatives from 55 multiplex families were sequenced. We examined rare single nucleotide variants (SNVs) shared by affected relatives in 348 recognized candidate genes. Exact probabilities that affected relatives would share t

SUBMITTER: Bureau A 

PROVIDER: S-EPMC4096358 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature