ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- Tooth agenesis and orofacial clefting: genetic brothers in arms?Human genetics · 2016Pooled it
- Deletions and loss-of-function variants in TP63 associated with orofacial clefting.European journal of human genetics : EJHG · 2019Trial
- Micronutrient intake and food insecurity among mothers of infants with orofacial clefts: a cross-sectional study in Iran.Scientific reports · 2026Article
- Cis-regulatory evolution shapes facial diversity in birds and mammals.Science advances · 2026Article
- Dissecting the Genetic Contribution of Tooth Agenesis.International journal of molecular sciences · 2025Review
- Identification and Functional Analysis of Novel Mutations in AXIN2 and LRP6 Linked With Non-Syndromic Tooth Agenesis.Molecular genetics & genomic medicine · 2025Article
- Craniofacial and Dental Anomalies of a Patient Carrying Two MicroRNA Variants: A Proof-Of-Concept Case Report.Clinical case reports · 2025Article
- Genotype-phenotype analysis and functional study of three novelFrontiers in genetics · 2025Article
- Single-cell multiome characterizing intercellular communication and intracellular regulation of epithelium and mesenchymal during secondary palate development in mice.Computational and structural biotechnology journal · 2025Article
- Prevalence, trend, and associated risk factors for cleft lip with/without cleft palate: a national study on live births from 2016 to 2021.BMC oral health · 2024Article
- Expression Levels of WNT Signaling Pathway Genes During Early Tooth Development.Organogenesis · 2023Review
- Identification of novel candidate genes associated with non-syndromic tooth agenesis in Mongolian families.Clinical oral investigations · 2023Article
- Wnt signaling: Essential roles in osteoblast differentiation, bone metabolism and therapeutic implications for bone and skeletal disorders.Genes & diseases · 2023Review
- LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low-Density Lipoprotein Receptor-Related Protein 6.JBMR plus · 2023Article
- Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing.Journal of clinical medicine · 2023Article
- The Genes Involved in Dentinogenesis.Organogenesis · 2022Article
- Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update.Genes · 2022Article
- Rethinking the Genetic Etiology of Nonsyndromic Tooth Agenesis.Current osteoporosis reports · 2022Review
- NovelJournal of personalized medicine · 2022Article
- Review
Corrections and comments
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Authors and funding
42 authors at 7 institutions in 5 countries.
Funding
Abstract
purposeWe aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting (OFC) by combining whole-exome sequencing (WES) and targeted resequencing in a large cohort of TA and OFC patients.
methodsWES was performed in two unrelated patients: one with severe TA and OFC and another with severe TA only. After deleterious mutations were identified in a gene encoding low-density lipoprotein receptor-related protein 6 (LRP6), all its exons were resequenced with molecular inversion probes in 67 patients with TA, 1,072 patients with OFC, and 706 controls.
resultsWe identified a frameshift (c.4594delG, p.Cys1532fs) and a canonical splice-site mutation (c.3398-2A>C, p.?) in LRP6, respectively, in the patient with TA and OFC and in the patient with severe TA only. The targeted resequencing showed significant enrichment of unique LRP6 variants in TA patients but not in nonsyndromic OFC patients. Of the five variants in patients with TA, two affected the canonical splice site and three were missense variants; all variants segregated with the dominant phenotype, and in one case the missense mutation occurred de novo.
conclusionMutations in LRP6 cause TA in humans.Genet Med 18 11, 1158-1162.
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