Variant analyses of candidate genes in orofacial clefts in multi-ethnic populations.

ABSTRACT:

Objectives

Cleft lip with/without cleft palate and cleft palate only is congenital birth defects where the upper lip and/or palate fail to fuse properly during embryonic facial development. Affecting ~1.2/1000 live births worldwide, these orofacial clefts impose significant social and financial burdens on affected individuals and their families. Orofacial clefts have a complex etiology resulting from genetic variants combined with environmental covariates. Recent genome-wide association studies and whole-exome sequencing for orofacial clefts identified significant genetic associations and variants in several genes. Of these, we investigated the role of common/rare variants in SHH, RORA, MRPL53, ACVR1, and GDF11.

Materials and methods

We sequenced these five genes in 1255 mul

SUBMITTER: Li M 

PROVIDER: S-EPMC9733635 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature