ArticleMolecular genetics & genomic medicine2017
Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Research on the role and mechanism of FAT4 in the development and progression of tumor and non-tumor diseases.Discover oncology · 2026Review
- mEpigenetics · 2022Article
- FAT4 identified as a potential modifier of orofacial cleft laterality.Genetic epidemiology · 2021Article
- Detecting Gene-Environment Interaction for Maternal Exposures Using Case-Parent Trios Ascertained Through a Case With Non-Syndromic Orofacial Cleft.Frontiers in cell and developmental biology · 2021Article
- Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients.Genes · 2019Article
- Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants.Genetic epidemiology · 2019Article
- Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.Molecular genetics & genomic medicine · 2017Article
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Authors and funding
17 authors.
Funding
Abstract
backgroundNonsyndromic oral clefts are craniofacial malformations, which include cleft lip with or without cleft palate. The etiology for oral clefts is complex with both genetic and environmental factors contributing to risk. Previous genome-wide association (GWAS) studies have identified multiple loci with small effects; however, many causal variants remain elusive.
methodsIn this study, we address this by specifically looking for rare, potentially damaging variants in family-based data. We analyzed both whole exome sequence (WES) data and whole genome sequence (WGS) data in multiplex cleft families to identify variants shared by affected individuals.
resultsHere we present the results from these analyses. Our most interesting finding was from a single Syrian family, which showed enrichment of nonsynonymous and potentially damaging rare variants in two genes:
conclusionNeither of these candidate genes has previously been associated with oral clefts and, if confirmed as contributing to disease risk, may indicate novel biological pathways in the genetic etiology for oral clefts.
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