ArticleJournal of medical genetics2008
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.
Article in Journal of medical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed.
- Prenatal genetic findings using karyotyping and chromosomal microarray analysis in the first-occurrence typical orofacial clefts.Molecular biology reports · 2025Article
- The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility.Oral and maxillofacial surgery · 2023Review
- Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing.Journal of clinical medicine · 2023Article
- 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
- Transcriptomics unravels molecular players shaping dorsal lip hypertrophy in the vacuum cleaner cichlid, Gnathochromis permaxillaris.BMC genomics · 2021Article
- Expression Analysis ofBiology · 2021Article
- A Novel Van der Woude Syndrome-CausingFrontiers in cell and developmental biology · 2020Article
- Brain-Wide Genome-Wide Association Study for Alzheimer's Disease via Joint Projection Learning and Sparse Regression Model.IEEE transactions on bio-medical engineering · 2019Article
- Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate.Journal of clinical laboratory analysis · 2018Article
- Genetic basis of human congenital anomalies of the kidney and urinary tract.The Journal of clinical investigation · 2018Review
- Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children.Case reports in genetics · 2018Article
- Identification ofGenetics · 2018Article
- Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.International journal of molecular sciences · 2017Review
- Gene expression profiling analysis contributes to understanding the association between non-syndromic cleft lip and palate, and cancer.Molecular medicine reports · 2016Article
- Discovery of candidate genes for nonsyndromic cleft lip palate through genome-wide linkage analysis of large extended families in the Malay population.BMC genetics · 2016Article
- Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex.Molecular cytogenetics · 2016Article
- Clinical Aspects associated with Syndromic forms of Orofacial Clefts in a Colombian population.Colombia medica (Cali, Colombia) · 2015Article
- Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.Kidney international · 2015Article
- New insights into craniofacial malformations.Human molecular genetics · 2015Review
- 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
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Authors and funding
17 authors.
Funding
Abstract
AIM AND
methodWe analysed DNA samples isolated from individuals born with cleft lip and cleft palate to identify deletions and duplications of candidate gene loci using array comparative genomic hybridisation (array-CGH).
resultsOf 83 syndromic cases analysed we identified one subject with a previously unknown 2.7 Mb deletion at 22q11.21 coinciding with the DiGeorge syndrome region. Eighteen of the syndromic cases had clinical features of Van der Woude syndrome and deletions were identified in five of these, all of which encompassed the interferon regulatory factor 6 (IRF6) gene. In a series of 104 non-syndromic cases we found one subject with a 3.2 Mb deletion at chromosome 6q25.1-25.2 and another with a 2.2 Mb deletion at 10q26.11-26.13. Analyses of parental DNA demonstrated that the two deletion cases at 22q11.21 and 6q25.1-25.2 were de novo, while the deletion of 10q26.11-26.13 was inherited from the mother, who also has a cleft lip. These deletions appear likely to be causally associated with the phenotypes of the subjects. Estrogen receptor 1 (ESR1) and fibroblast growth factor receptor 2 (FGFR2) genes from the 6q25.1-25.2 and 10q26.11-26.13, respectively, were identified as likely causative genes using a gene prioritization software.
conclusionWe have shown that array-CGH analysis of DNA samples derived from cleft lip and palate subjects is an efficient and productive method for identifying candidate chromosomal loci and genes, complementing traditional genetic mapping strategies.
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