Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.

ABSTRACT:

Background

To date, there are over 320 variants identified in the IRF6 gene that cause Van der Woude syndrome or popliteal pterygium syndrome. We sequenced this gene in a South African orofacial cleft cohort to identify the causal IRF6 variants in our population.

Method

Saliva samples from 100 patients with syndromic and non-syndromic CL ± P were collected. Patients were recruited from the cleft clinics at two public, tertiary hospitals in Durban, South Africa (SA), namely Inkosi Albert Luthuli Central Hospital (IALCH) and KwaZulu-Natal Children's Hospital (KZNCH). We prospectively sequenced the exons of IRF6 in 100 orofacial cleft cases, and where possible, we also sequenced the parents of the individuals to determine the segregation pattern.

Results

Two variants wer

SUBMITTER: Naicker T 

PROVIDER: S-EPMC10178789 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature