ArticleBirth defects research. Part A, Clinical and molecular teratology2012
Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 2 of them syntheses that pooled it.
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Who cites it
60 citing papers in PubMed, 2 syntheses or guidelines pooled it, 100 citations in OpenAlex.
- Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.Human genetics · 2017Pooled it
- Pooled it
- The role of Rho GTPases in facial morphogenesis.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Review
- Ectodermal loss of ARHGAP29 alters epithelial morphology and disrupts murine palatogenesis.Development (Cambridge, England) · 2026Article
- Ubiquitylation-dependent Rap2 activation regulates lamellipodia dynamics during cell migration.Journal of cell science · 2025Article
- ARHGAP29 promotes keratinocyte proliferation and migration in vitro and is dispensable for in vivo wound healing.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- C1-linker region of PARG1 RhoGAP promotes the catalytic recognition fold of RhoA substrate.PloS one · 2025Article
- Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC).European journal of human genetics : EJHG · 2025Article
- Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.Human mutation · 2025Review
- GRHL2 and AP2a coordinate early surface ectoderm lineage commitment during development.iScience · 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
- PARD3 gene variation as candidate cause of nonsyndromic cleft palate only.Journal of cellular and molecular medicine · 2022Article
- To Stick or Not to Stick: Adhesions in Orofacial Clefts.Biology · 2022Review
- Generating Zebrafish RNA-Less Mutant Alleles by Deleting Gene Promoters with CRISPR/Cas9.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Targeted re-sequencing on 1p22 among non-syndromic orofacial clefts from Han Chinese population.Frontiers in genetics · 2022Article
- Genetic Variants Associated With Subjective Cognitive Decline in Patients With Migraine.Frontiers in aging neuroscience · 2022Article
- Association ofInternational journal of environmental research and public health · 2021Article
- The Mafb cleft-associated variant H131Q is not required for palatogenesis in the mouse.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Article
- Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate.HGG advances · 2021Article
- Polymorphisms ofLife (Basel, Switzerland) · 2021Review
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundNonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect with complex etiology reflecting the action of multiple genetic and environmental factors. Genome-wide association studies have successfully identified five novel loci associated with NSCL/P, including a locus on 1p22.1 near the ABCA4 gene. Because neither expression analysis nor mutation screening support a role for ABCA4 in NSCL/P, we investigated the adjacent gene ARHGAP29.
methodsMutation screening for ARHGAP29 protein coding exons was conducted in 180 individuals with NSCL/P and controls from the United States and the Philippines. Nine exons with variants in ARHGAP29 were then screened in an independent set of 872 cases and 802 controls. Arhgap29 expression was evaluated using in situ hybridization in murine embryos.
resultsSequencing of ARHGAP29 revealed eight potentially deleterious variants in cases including a frameshift and a nonsense variant. Arhgap29 showed craniofacial expression and was reduced in a mouse deficient for Irf6, a gene previously shown to have a critical role in craniofacial development.
conclusionThe combination of genome-wide association, rare coding sequence variants, craniofacial specific expression, and interactions with IRF6 support a role for ARHGAP29 in NSCL/P and as the etiologic gene at the 1p22 genome-wide association study locus for NSCL/P. This work suggests a novel pathway in which the IRF6 gene regulatory network interacts with the Rho pathway via ARHGAP29. Birth Defects Research (Part A) 2012. © 2012 Wiley Periodicals, Inc.
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