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Article

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.

European journal of human genetics : EJHG - 1 Mar 2015

Gonzaga-Jauregui Claudia, Gamble Candace N, Yuan Bo, Penney Samantha, Jhangiani Shalini, Muzny Donna M, Gibbs Richard A, Lupski James R, Hecht Jacqueline T

Abstract excerpt

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...

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Identifiers

PMID: 24986830
DOI: 10.1038/ejhg.2014.107
PMCID: PMC4326704

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Research trail→

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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.PMID 24986830Read ↗

First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature.Semantic proximity Read ↗

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.Semantic proximity Read ↗

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.Semantic proximity Read ↗

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.Semantic proximity Read ↗

Steel syndrome: Report of three patients, including monozygotic twins and review of clinical and mutation profiles.Semantic proximity Read ↗

Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.Semantic proximity Read ↗

Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.Semantic proximity Read ↗

A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.Semantic proximity Read ↗

Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature.Semantic proximity Read ↗

Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene.Semantic proximity Read ↗

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.Semantic proximity Read ↗

A novel de novo mutation in COL1A1 leading to osteogenesis imperfecta confirmed by zebrafish model.Semantic proximity Read ↗

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