ArticleBMC genetics2014
A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk.
Article in BMC genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 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
- Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.American journal of human genetics · 2020Article
- Detection of de novo copy number deletions from targeted sequencing of trios.Bioinformatics (Oxford, England) · 2019Article
- Identification ofGenetics · 2018Article
- Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.Birth defects research · 2017Article
- Article
- The recurrence risk of genetic complex diseases.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2017Review
- Genetics and genomics etiology of nonsyndromic orofacial clefts.Molecular genetics & genomic medicine · 2017Article
- Identifying a Deletion Affecting Total Lung Capacity Among Subjects in the COPDGene Study Cohort.Genetic epidemiology · 2016Article
- Hemizygous Deletion on Chromosome 3p26.1 Is Associated with Heavy Smoking among African American Subjects in the COPDGene Study.PloS one · 2016Article
- A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts.Birth defects research. Part A, Clinical and molecular teratology · 2015Article
- Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases.PloS one · 2015Article
- Detecting disease variants in case-parent trio studies using the bioconductor software package trio.Genetic epidemiology · 2014Article
- Is Chromosome 15q13.3 Duplication Involving CHRNA7 Associated With Oral Clefts?Child neurology openArticle
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
backgroundCopy number variants (CNVs) may play an important part in the development of common birth defects such as oral clefts, and individual patients with multiple birth defects (including clefts) have been shown to carry small and large chromosomal deletions. In this paper we investigate de novo deletions defined as DNA segments missing in an oral cleft proband but present in both unaffected parents. We compare de novo deletion frequencies in children of European ancestry with an isolated, non-syndromic oral cleft to frequencies in children of European ancestry from randomly sampled trios.
resultsWe identified a genome-wide significant 62 kilo base (kb) non-coding region on chromosome 7p14.1 where de novo deletions occur more frequently among oral cleft cases than controls. We also observed wider de novo deletions among cleft lip and palate (CLP) cases than seen among cleft palate (CP) and cleft lip (CL) cases.
conclusionsThis study presents a region where de novo deletions appear to be involved in the etiology of oral clefts, although the underlying biological mechanisms are still unknown. Larger de novo deletions are more likely to interfere with normal craniofacial development and may result in more severe clefts. Study protocol and sample DNA source can severely affect estimates of de novo deletion frequencies. Follow-up studies are needed to further validate these findings and to potentially identify additional structural variants underlying oral clefts.
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