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

Thirona Naicker; Chinyere C. Adeleke; Azeez Alade; Peter A. Mossey; Waheed A. Awotoye; Tamara D. Busch; Mary Li; Joy Olotu; Lord J. J. Gowans; Colleen Aldous; Azeez Butali

doi:10.1177/10556656211038453

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

Journal article

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

Thirona Naicker, Chinyere C. Adeleke, Azeez Alade, Peter A. Mossey, Waheed A. Awotoye, Tamara D. Busch, Mary Li, Joy Olotu, Lord J. J. Gowans, Colleen Aldous, …

The Cleft palate-craniofacial journal, Vol.59(9), pp.1125-1130

09/2022

DOI: 10.1177/10556656211038453

PMCID: PMC9790085

PMID: 34459660

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https://discovery.dundee.ac.uk/en/publications/157739cb-e80f-46da-abcb-4d785ad88169View

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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. Setting The cleft clinics from 2 public, tertiary hospitals in Durban, South Africa (SA), namely Inkosi Albert Luthuli Central Hospital and KwaZulu-Natal Children's Hospital. Patients, participants One hundred patients with CL ± P and their parents. Interventions Saliva samples were collected. Main outcome measures To ascertain the genetic variants in the GRHL3 gene in patients with CL ± P in SA. Results Five variants in GRHL3 were observed; 3 were novel and 2 were known variants. The novel variants were intronic variants (c.1062 + 77A>G and c.627 + 1G>A) and missense variant (p.Asp169Gly). Conclusions This study provides further evidence that variants in GRHL3 contribute to the risk of nonsyndromic CP in African populations, specifically, in the South African population.

Details

Title: Subtitle: Novel GRHL3 Variants in a South African Cohort With Cleft Lip and Palate
Creators: Thirona Naicker - University of KwaZulu-Natal
Chinyere C. Adeleke - University of Iowa
Azeez Alade - University of Iowa
Peter A. Mossey - University of Dundee
Waheed A. Awotoye - University of Iowa
Tamara D. Busch - University of Iowa
Mary Li - University of Iowa
Joy Olotu - Rivers State University
Lord J. J. Gowans - Kwame Nkrumah University of Science and Technology
Colleen Aldous - University of KwaZulu-Natal
Azeez Butali - University of Iowa
Resource Type: Journal article
Publication Details: The Cleft palate-craniofacial journal, Vol.59(9), pp.1125-1130
DOI: 10.1177/10556656211038453
PMID: 34459660
PMCID: PMC9790085
NLM abbreviation: Cleft Palate Craniofac J
ISSN: 1055-6656
eISSN: 1545-1569
Grant note: DOI: 10.13039/501100002001, name: Health Services and Delivery Research Programme, award: R01 DE 28300; DOI: 10.13039/100000072, name: National Institute of Dental and Craniofacial Research, award: R00 DE022378; name: Smile Train
Language: English
Date published: 09/2022
Academic Unit: Oral Pathology, Radiology and Medicine; Stead Family Department of Pediatrics; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984354151002771

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