Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

ABSTRACT: Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifactorial condition in which clefting is an isolated phenotype, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of phenotypes. Nonsyndromic clefting has been shown to arise through complex interactions between genetic and environmental factors. However, there is increasing evidence that the broad NSCLP classification may include a proportion of cases showing familial patterns of inheritance and contain highly penetrant deleterious variation in specific genes. Through exome sequencing of multi-case families ascertained in Bogota, Colombia, we identify 28 non-synonymous single nucleotide variants that are considered damaging by at least one predictive score. We discuss the funct

SUBMITTER: Pengelly RJ 

PROVIDER: S-EPMC4960602 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature