ArticleAmerican journal of human genetics2009
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.
- Genetic background of nonsyndromic oligodontia: a systematic review and meta-analysis.Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie · 2013Pooled it
- Combined Mutations of LTBP3 and COL5A1A in Geleophysic Dysplasia.Case reports in medicine · 2026Article
- Oligodontia Management in a Resource-Limited Setting: Two Case Reports and Review of Literature.Case reports in dentistry · 2025Article
- The Mechanisms and Application Value of Postbiotics in Caries Prevention and Management.Oral health & preventive dentistry · 2024Review
- Multi-organ phenotypes in mice lacking latent TGFβ binding protein 2 (LTBP2).Developmental dynamics : an official publication of the American Association of Anatomists · 2024Review
- Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.Heliyon · 2024Article
- Article
- Exploring the biological function of immune cell-related genes in human immunodeficiency virus (HIV)-1 infection based on weighted gene co-expression network analysis (WGCNA).BMC medical genomics · 2022Article
- Dental Anomalies in Consanguineous Marriage: A Clinical-Radiological Study.International dental journal · 2022Article
- Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.Orphanet journal of rare diseases · 2021Article
- Article
- A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant inGenes · 2021Article
- Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.American journal of human genetics · 2021Article
- Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.Molecular genetics and genomics : MGG · 2019Article
- Review
- LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.American journal of human genetics · 2018Article
- Article
- Enamel and dental anomalies in latent-transforming growth factor beta-binding protein 3 mutant mice.European journal of oral sciences · 2017Article
- Genetic Basis of Nonsyndromic and Syndromic Tooth Agenesis.Journal of pediatric genetics · 2016Review
- A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.Journal of medical genetics · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have identified a consanguineous Pakistani family where oligodontia is inherited along with short stature in an autosomal-recessive fashion. Increased bone density was present in the spine and at the base of the skull. Using high-density single-nucleotide polymorphism microarrays for homozygosity mapping, we identified a 28 Mb homozygous stretch shared between affected individuals on chromosome 11q13. Screening selected candidate genes within this region, we identified a homozygous nonsense mutation, Y774X, within LTBP3, the gene for the latent TGF-beta binding protein 3, an extracellular matrix protein believed to be required for osteoclast function.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.