ArticleBirth defects research. Part A, Clinical and molecular teratology2015
A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation.medRxiv : the preprint server for health sciences · 2026Article
- Decoding structural birth defects through genomic landscapes: Innovative frameworks for diagnosis (Review).International journal of molecular medicine · 2026Review
- Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.American journal of human genetics · 2023Article
- Exosomes-a potential indicator and mediator of cleft lip and palate: a narrative review.Annals of translational medicine · 2021Review
- A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa.NPJ genomic medicine · 2021Article
- ADAM3A copy number gains occur in a subset of conjunctival squamous cell carcinoma and its high grade precursors.Human pathology · 2019Article
- Enzyme activity and phosphate uptake in the small intestine of Sprague Dawley rats improved by supplementation of infant formula with prebiotics.Animal nutrition (Zhongguo xu mu shou yi xue hui) · 2018Article
- Identification ofGenetics · 2018Article
- Genetics and genomics etiology of nonsyndromic orofacial clefts.Molecular genetics & genomic medicine · 2017Article
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Authors and funding
8 authors.
Funding
Abstract
backgroundDNA copy number variants play an important part in the development of common birth defects such as oral clefts. Individual patients with multiple birth defects (including oral clefts) have been shown to carry small and large chromosomal deletions.
methodsWe investigated the role of polymorphic copy number deletions by comparing transmission rates of deletions from parents to offspring in case-parent trios of European ancestry ascertained through a cleft proband with trios ascertained through a normal offspring. DNA copy numbers in trios were called using the joint hidden Markov model in the freely available PennCNV software. All statistical analyses were performed using Bioconductor tools in the open source environment R.
resultsWe identified a 67 kb region in the gene MGAM on chromosome 7q34, and a 206 kb region overlapping genes ADAM3A and ADAM5 on chromosome 8p11, where deletions are more frequently transmitted to cleft offspring than control offspring.
conclusionsThese genes or nearby regulatory elements may be involved in the etiology of oral clefts.
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