Novel GRHL3 Variants in a South African Cohort With Cleft Lip and Palate.

ABSTRACT:

Objective

The etiology of cleft palate (CP) is poorly understood compared with that of cleft lip with or without palate (CL ± P). Recently, variants in Grainyhead like transcription factor 3 (GRHL3) were reported to be associated with a risk for CP in European and some African populations including Nigeria, Ghana, and Ethiopia. In order to identify genetic variants that may further explain the etiology of CP, we sequenced GRHL3 in a South African population to determine if rare variants in GRHL3 are associated with the presence of syndromic or nonsyndromic CP.

Design

We sequenced the exons of GRHL3 in 100 cases and where possible, we sequenced the parents of the individuals to determine the segregation pattern and presence of de novo variants.

SUBMITTER: Naicker T 

PROVIDER: S-EPMC9790085 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature