ArticleAmerican journal of medical genetics. Part A2019
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.
Article in American journal of medical genetics. Part A, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models.European journal of human genetics : EJHG · 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
- Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.Molecular genetics & genomic medicine · 2023Article
- Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing.Molecular genetics and genomics : MGG · 2022Article
- Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate.HGG advances · 2021Article
- Large-scale sequencing of flatfish genomes provides insights into the polyphyletic origin of their specialized body plan.Nature genetics · 2021Article
- Genetic variants in S-adenosyl-methionine synthesis pathway and nonsyndromic cleft lip with or without cleft palate in Chile.Pediatric research · 2021Article
- Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.American journal of medical genetics. Part A · 2019Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Cleft lip with/without cleft palate (CLP) is a common craniofacial malformation with complex etiologies, reflecting both genetic and environmental factors. Most of the suspected genetic risk for CLP has yet to be identified. To further classify risk loci and estimate the contribution of rare variants, we sequenced the exons in 49 candidate genes in 323 CLP cases and 211 nonmalformed controls. Our findings indicated that rare, protein-altering variants displayed markedly higher burdens in CLP cases at relevant loci. First, putative loss-of-function mutations (nonsense, frameshift) were significantly enriched among cases: 13 of 323 cases (~4%) harbored such alleles within these 49 genes, versus one such change in controls (p = 0.01). Second, in gene-level analyses, the burden of rare alleles showed greater case-association for several genes previously implicated in cleft risk. For example, BHMT displayed a 10-fold increase in protein-altering variants in CLP cases (p = .03), including multiple case occurrences of a rare frameshift mutation (K400 fs). Other loci with greater rare, coding allele burdens in cases were in signaling pathways relevant to craniofacial development (WNT9B, BMP4, BMPR1B) as well as the methionine cycle (MTRR). We conclude that rare coding variants may confer risk for isolated CLP.
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