ArticleHuman genetics2016
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.
Article in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed, 57 citations in OpenAlex.
- Deletions and loss-of-function variants in TP63 associated with orofacial clefting.European journal of human genetics : EJHG · 2019Trial
- 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
- Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate.Human molecular genetics · 2025Article
- Prenatal genetic findings using karyotyping and chromosomal microarray analysis in the first-occurrence typical orofacial clefts.Molecular biology reports · 2025Article
- Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.Orphanet journal of rare diseases · 2025Article
- Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center.Italian journal of pediatrics · 2024Article
- Rare variants analyses suggest novel cleft genes in the African population.Scientific reports · 2024Article
- Rare Variants Analyses Suggest Novel Cleft Genes in the African Population.Research square · 2024Article
- Advances in research of biological functions of Isthmin-1.Journal of cell communication and signaling · 2023Review
- Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.Molecular syndromology · 2023Article
- Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.Human molecular genetics · 2023Review
- The impact of developmental genes in non-syndromic cleft lip and/or palateJournal of the Turkish German Gynecological Association · 2023Article
- Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing.Journal of clinical medicine · 2023Article
- Alternative polyadenylation transcriptome-wide association study identifies APA-linked susceptibility genes in brain disorders.Nature communications · 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
- Identification of a Novel Variant ofInternational journal of genomics · 2023Article
- [Copy number variation and parental consanguinity elevated in newborns of high altitude with major congenital anomalies in Perú].Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina) · 2022Article
- The Evaluation ofChildren (Basel, Switzerland) · 2022Article
- MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent.Molecular cytogenetics · 2021Article
- Clinical Practice Guidelines on the Treatment of Patients with Cleft Lip, Alveolus, and Palate: An Executive Summary.Journal of clinical medicine · 2021Article
Corrections and comments
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Authors and funding
6 authors at 5 institutions in 3 countries.
Funding
Abstract
Orofacial clefts (OFCs) represent a large fraction of human birth defects and are one of the most common phenotypes affected by large copy number variants (CNVs). Due to the limited number of CNV patients in individual centers, CNV analyses of a large number of OFC patients are challenging. The present study analyzed 249 genomic deletions and 226 duplications from a cohort of 312 OFC patients reported in two publicly accessible databases of chromosome imbalance and phenotype in humans, DECIPHER and ECARUCA. Genomic regions deleted or duplicated in multiple patients were identified, and genes in these overlapping CNVs were prioritized based on the number of genes encompassed by the region and gene expression in embryonic mouse palate. Our analyses of these overlapping CNVs identified two genes known to be causative for human OFCs, SATB2 and MEIS2, and 12 genes (DGCR6, FGF2, FRZB, LETM1, MAPK3, SPRY1, THBS1, TSHZ1, TTC28, TULP4, WHSC1, WHSC2) that are associated with OFC or orofacial development. Additionally, we report 34 deleted and 24 duplicated genes that have not previously been associated with OFCs but are associated with the BMP, MAPK and RAC1 pathways. Statistical analyses show that the high number of overlapping CNVs is not due to random occurrence. The identified genes are not located in highly variable genomic regions in healthy populations and are significantly enriched for genes that are involved in orofacial development. In summary, we report a CNV analysis pipeline of a large cohort of OFC patients and identify novel candidate OFC genes.
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