ArticleAmerican journal of medical genetics. Part A2014
Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population.
Article in American journal of medical genetics. Part A, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 43 citations in OpenAlex.
- Trial
- The role of Rho GTPases in facial morphogenesis.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Review
- Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.Cell death & disease · 2026Article
- The Evolution of Gene Sequencing Technologies: Unveiling Genetic Architecture of Nonsyndromic Orofacial Clefts.Genetics research · 2026Review
- Etiology of Cleft Lip and/or Cleft Palate in Southeastern Poland Based on Current Observational Study.Journal of clinical medicine · 2025Article
- Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC).European journal of human genetics : EJHG · 2025Article
- The presence and distribution of various genes in postnatal CLP-affected palatine tissue.Maxillofacial plastic and reconstructive surgery · 2024Article
- Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis ofHGG advances · 2023Article
- Variant analyses of candidate genes in orofacial clefts in multi-ethnic populations.Oral diseases · 2022Article
- Targeted re-sequencing on 1p22 among non-syndromic orofacial clefts from Han Chinese population.Frontiers in genetics · 2022Article
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
- Identification of a Novel Variant ofBioMed research international · 2020Article
- Williams Syndrome, Human Self-Domestication, and Language Evolution.Frontiers in psychology · 2019Article
- Medical genetics and genomic medicine in Nigeria.Molecular genetics & genomic medicine · 2018Article
- Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2018Article
- Non-syndromic Cleft Lip and Palate Polymorphisms Affect Normal Lip Morphology.Frontiers in genetics · 2018Article
- ARHGAP29 Mutation Is Associated with Abnormal Oral Epithelial Adhesions.Journal of dental research · 2017Article
- Association between PAX7 and NTN1 gene polymorphisms and nonsyndromic orofacial clefts in a northern Chinese population.Medicine · 2017Article
- The prevalence, penetrance, and expressivity of etiologicMolecular genetics & genomic medicine · 2017Article
- Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations.Journal of dental research · 2016Article
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Authors and funding
21 authors at 7 institutions in 4 countries.
Funding
Abstract
Nonsyndromic clefts of the lip and palate (NSCLP) are complex genetic traits. Together, they are classified as one of the most common birth defects with a prevalence of 1/700 live births. Genome-wide association studies (GWAS) for nonsyndromic cleft lip with or without cleft palate (NSCL[P]) revealed significant association for common single nucleotide polymorphisms near genes involved in craniofacial development i.e., MAFB, PAX7, VAX1, ARHGAP29 (ABCA4 locus), and IRF6. Sequencing of protein coding regions of the NSCL(P) GWAS candidate genes or adjacent genes suggest a role for rare functional variants. Replication studies in the African population did not observe any significant association with the GWAS candidate genes. On the other hand, the role of rare functional variants in GWAS candidate genes has not been evaluated in the African population. We obtained saliva samples from case triads in Nigeria and Ethiopia for Sanger sequencing of the GWAS candidate genes (MAFB, PAX7, VAX1, ARHGAP29, and IRF6) in order to identify rare functional variants. A total of 220 African samples (140 Nigerians and 80 Ethiopians) were sequenced and we found the following new rare variants- p.His165Asn in the MAFB gene, p.Asp428Asn in the PAX7, a splice-site variant that creates a new donor splice-site in PAX7. We also found three previously reported missense variants p.Gly466Ser in PAX7; p.Leu913Ser and Arg955His in ARHGAP29. No de novo mutations were found. Future genome-wide association and sequencing studies should be conducted using samples from Africa in order to identify new molecular genetic factors that contribute to the etiology of NSCLP.
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