ArticleBirth defects research2017
Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.
Article in Birth defects research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 25 citations in OpenAlex.
- 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
- 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
- Critical microRNAs and regulatory motifs in cleft palate identified by a conserved miRNA-TF-gene network approach in humans and mice.Briefings in bioinformatics · 2020Article
- Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.American journal of human genetics · 2020Article
- An integrative, genomic, transcriptomic and network-assisted study to identify genes associated with human cleft lip with or without cleft palate.BMC medical genomics · 2020Article
- Two novel genes TOX3 and COL21A1 in large extended Malay families with nonsyndromic cleft lip and/or palate.Molecular genetics & genomic medicine · 2019Article
- Network-based identification of critical regulators as putative drivers of human cleft lip.BMC medical genomics · 2019Article
- 9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus.Cold Spring Harbor molecular case studies · 2018Article
- Identification ofGenetics · 2018Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundThe majority of cleft lip with or without cleft palate cases appear as an isolated, nonsyndromic entity (NSCLP). With the advent of next generation sequencing, whole exome sequencing (WES) has been used to identify single nucleotide variants and insertion/deletions which cause or increase the risk of NSCLP. However, to our knowledge, there are no published studies using WES in NSCLP to investigate copy number changes (CNCs), which are a major component of human genetic variation. Our study aimed to identify CNCs associated with NSCLP in a Honduran population using WES.
methodsWES was performed on two to four members of 27 multiplex Honduran families. CNCs were identified using two algorithms, CoNIFER and XHMM. Priority was given to CNCs that were identified in more than one patient and had variant frequencies of less than 5% in reference data sets.
resultsWES completion was defined as >90% of the WES target at >8 × coverage and >80% of the WES target at >20 × coverage. Twenty-four CNCs that met our inclusion criteria were identified by both CoNIFER and XHMM. These CNCs were confirmed using quantitative PCR. Pedigree analysis produced three CNCs corresponding to ADH7, AHR, and CRYZ segregating with NSCLP. Two of the three CNCs implicate genes, AHR and ADH7, whose known biological functions could plausibly play a role in NSCLP.
conclusionWES can be used to detect candidate CNCs that may be involved in the pathophysiology of NSCLP. Birth Defects Research 109:1257-1267, 2017. © 2017 Wiley Periodicals, Inc.
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