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

Thirona Naicker; Azeez Alade; Chinyere Adeleke; Peter A Mossey; Waheed A Awotoye; Tamara Busch; Mary Li; Joy Olotu; Colleen Aldous; Azeez Butali

doi:10.1002/mgg3.2138

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

Journal article

Open access

Peer reviewed

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

Thirona Naicker, Azeez Alade, Chinyere Adeleke, Peter A Mossey, Waheed A Awotoye, Tamara Busch, Mary Li, Joy Olotu, Colleen Aldous and Azeez Butali

Molecular genetics & genomic medicine, Vol.11(5), e2138

05/2023

DOI: 10.1002/mgg3.2138

PMCID: PMC10178789

PMID: 36811272

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Abstract

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. 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. Two variants were identified; one novel (p.Cys114Tyr) and one known (p.Arg84His) missense variant in IRF6 gene were identified. The patient with the p.Cys114Tyr variant was non-syndromic with no clinical VWS phenotype expected of individuals with IRF6 coding variants, and the patient with the p.Arg84His had phenotypic features of popliteal pterygium syndrome. The p.Arg84His variant segregated in the family, with the father also being affected. This study provides evidence that IRF6 variants are found in the South African population. Genetic counselling is essential for affected families, particularly in the absence of a known clinical phenotype since it helps with the plans for future pregnancies.

South Africa

Van der Woude syndrome

orofacial clefts

IRF6

popliteal pterygium syndrome

Details

Title: Subtitle: Novel IRF6 variant in orofacial cleft patients from Durban, South Africa
Creators: Thirona Naicker - Smile Train
Azeez Alade - Department of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa City, Iowa, USA
Chinyere Adeleke - University of Iowa
Peter A Mossey - Smile Train
Waheed A Awotoye - University of Iowa
Tamara Busch - Department of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa City, Iowa, USA
Mary Li - University of Iowa
Joy Olotu - University of Port Harcourt
Colleen Aldous - University of KwaZulu-Natal
Azeez Butali - Smile Train
Resource Type: Journal article
Publication Details: Molecular genetics & genomic medicine, Vol.11(5), e2138
DOI: 10.1002/mgg3.2138
PMID: 36811272
PMCID: PMC10178789
NLM abbreviation: Mol Genet Genomic Med
ISSN: 2324-9269
Grant note: R01 DE28300 / National Institute of Health/National Institute of Dental and Craniofacial Research 0193340 / Smile Train
Language: English
Electronic publication date: 02/21/2023
Date published: 05/2023
Academic Unit: Oral Pathology, Radiology and Medicine; Stead Family Department of Pediatrics; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984368431002771

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