ArticleEuropean journal of human genetics : EJHG2015
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.
- Pooled it
- Implementation of a medical genomics program for rare diseases in Uruguay.Orphanet journal of rare diseases · 2026Article
- PGVDA: a pathway-aggregated genetic dosage framework for interpretable disease classification using machine learning.Briefings in bioinformatics · 2026Article
- Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature.Frontiers in medicine · 2026Article
- Whole Genome Sequencing of Discordant Monozygotic Twins Reveals Regulatory Variants Associated With Nonsyndromic Orofacial Clefts.Human mutation · 2026Article
- Improved allele frequencies in gnomAD through local ancestry inference.Nature communications · 2025Article
- The Association of theGenes · 2025Article
- Genetic Architecture of Hock Joint Bumps in Pigs: Insights from ROH and GWAS Analyses.Animals : an open access journal from MDPI · 2025Article
- Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients.BioData mining · 2025Article
- Founder mutations and rare disease in the Arab world.Disease models & mechanisms · 2024Review
- Phenotypic overlap between rare disease patients and variant carriers in a large population cohort informs biological mechanisms.medRxiv : the preprint server for health sciences · 2024Article
- Designing collagens to shed light on the multi-scale structure-function mapping of matrix disorders.Matrix biology plus · 2024Review
- Discovery of novel genetic syndromes in Latin America: Opportunities and challenges.Genetics and molecular biology · 2024Article
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- Article
- Article
- Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.The American journal of case reports · 2022Article
- Across-breed genetic investigation of canine hip dysplasia, elbow dysplasia, and anterior cruciate ligament rupture using whole-genome sequencing.Frontiers in genetics · 2022Article
- Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene.Virchows Archiv : an international journal of pathology · 2021Article
- New gene discoveries in skeletal diseases with short stature.Endocrine connections · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Osteochondrodysplasias represent a large group of developmental structural disorders that can be caused by mutations in a variety of genes responsible for chondrocyte development, differentiation, mineralization and early ossification. The application of whole-exome sequencing to disorders apparently segregating as Mendelian traits has proven to be an effective approach to disease gene identification for conditions with unknown molecular etiology. We identified a homozygous missense variant p.(Gly697Arg) in COL27A1, in a family with Steel syndrome and no consanguinity. Interestingly, the identified variant seems to have arisen as a founder mutation in the Puerto Rican population.
Indexed as
Identifiers
What OpenQuestion holds
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.