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Updated: Feb 23, 2026

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Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.

M A Eshete1,2,3, H Liu4,5, M Li6

  • 11 School of Public Health, Addis Ababa University, Addis Ababa, Ethiopia.

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|September 9, 2017
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Summary

Genetic mutations in the GRHL3 gene are linked to nonsyndromic cleft palate only (CPO) in African populations. This study identified novel GRHL3 mutations, expanding our understanding of CPO

Keywords:
GWASVan der Woudemissense mutationorofacial cleftstargeted sequencingzebrafish

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Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Genetic etiology of cleft lip and palate is well-studied, but less is known about nonsyndromic cleft palate only (CPO).
  • A common GRHL3 variant is associated with CPO in Europeans, and GRHL3 mutations cause Van der Woude syndrome.
  • Rare GRHL3 mutations are investigated to explain missing heritability in CPO.

Purpose of the Study:

  • To identify rare mutations in the grainyhead like transcription factor 3 (GRHL3) gene in African individuals with nonsyndromic CPO.
  • To investigate the functional impact of identified GRHL3 mutations.
  • To determine if GRHL3 mutations contribute to CPO risk in African populations.

Main Methods:

  • Sequencing of GRHL3 exons in 134 African nonsyndromic CPO cases and available family members.
  • Analysis of de novo mutations in case-parent trios.
  • Functional studies including zebrafish overexpression and in vitro reporter assays.

Main Results:

  • Five novel GRHL3 mutations (2 missense, 1 splice site, 1 frameshift, 1 nonsense) were identified in African CPO cases.
  • These mutations were absent in 270 controls and public databases.
  • Functional assays indicated that 4 variants were null/hypomorphic and 1 was dominant negative, with incomplete penetrance observed in some mothers.

Conclusions:

  • Mutations in GRHL3 contribute to the risk of nonsyndromic CPO in African populations, similar to Caucasian populations.
  • The findings highlight GRHL3 as a significant gene in the etiology of CPO across diverse ethnicities.
  • Further research into GRHL3's role in craniofacial development is warranted.