ArticleJournal of medical genetics2006
Genetic evidence for the role of loci at 19q13 in cleft lip and palate.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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Who cites it
14 citing papers in PubMed.
- Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study.Frontiers in genetics · 2022Article
- Genetic Factors in Nonsyndromic Orofacial Clefts.Global medical genetics · 2020Review
- Review
- Two novel genes TOX3 and COL21A1 in large extended Malay families with nonsyndromic cleft lip and/or palate.Molecular genetics & genomic medicine · 2019Article
- Closing the Gap: Mouse Models to Study Adhesion in Secondary Palatogenesis.Journal of dental research · 2017Review
- Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.Clinical genetics · 2013Article
- Genetics of nonsyndromic orofacial clefts.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2012Review
- Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate.Genetic testing and molecular biomarkers · 2009Article
- Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate.Genetics and molecular biology · 2009Article
- Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.Genetics in medicine : official journal of the American College of Medical Genetics · 2008Article
- A genome wide linkage scan for cleft lip and palate and dental anomalies.American journal of medical genetics. Part A · 2008Article
- Defining subphenotypes for oral clefts based on dental development.Journal of dental research · 2007Article
- Current concepts in genetics of nonsyndromic clefts.Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of IndiaArticle
- Reconstruction of Drug-induced Cleft Palate Using Bone Marrow Mesenchymal Stem Cell in Rodents.Annals of maxillofacial surgeryArticle
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
backgroundClefts of the lip and palate are common birth defects, affecting approximately 1 in 700 births worldwide. The aetiology of clefting is complex, with multiple genetic and environmental influences.
methodsGenotype based linkage disequilibrium analysis was conducted using the family based association test (FBAT) and the likelihood ratio test (LRT). We also carried out direct sequencing of the PVR and PVRL2 candidate genes based on their homology to PVRL1, a gene shown previously to cause Margarita Island clefting. Participants included 434 patients with cleft lip with or without cleft palate or cleft palate only and their mothers from eight countries in South America, 205 nuclear triads (father-mother-affected child) from Iowa, 541 nuclear triads from Denmark, and 100 patients with cleft lip and palate from the Philippines.
resultsAn allelic variant in the PVR gene showed statistically significant association with both South American and Iowa populations (p = 0.0007 and p = 0.0009, respectively). Direct sequencing of PVR and PVRL2 yielded 26 variants, including two rare amino acid changes, one in each gene, which were not seen in controls.
conclusionsWe found an association between a common variant in a gene at 19q and isolated clefting in two heterogeneous populations. However, it is unclear from our data if rare variants in PVR and PVRL2 are sufficient to cause clefting in isolation.
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