Novel GRHL3 Variants in a South African Cohort With Cleft Lip and Palate.
Cleft Palate Craniofac J
; 59(9): 1125-1130, 2022 09.
Article
in En
| MEDLINE
| ID: mdl-34459660
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 OUTCOMEMEASURES:
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cleft Lip
/
Cleft Palate
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Child
/
Humans
Country/Region as subject:
Africa
Language:
En
Journal:
Cleft Palate Craniofac J
Journal subject:
ODONTOLOGIA
Year:
2022
Document type:
Article
Affiliation country:
Sudáfrica