Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.

doi:10.1038/ng0795-325

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Article

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.

Nature genetics - 1 Jul 1995

Hecht J T, Nelson L D, Crowder E, Wang Y, Elder F F, Harrison W R, Francomano C A, Prange C K, Lennon G G, Deere M

Abstract excerpt

Pseudoachondroplasia (PSACH) is a well characterized dwarfing condition mapping to chromosome 19p12-13.1. Cartilage oligomeric matrix protein (COMP), a cartilage specific protein, maps to the same location within a contig that spans the PSACH locus. Using single strand conformation polymorphism (...

Topics

Achondroplasia
Base Sequence
Cartilage
Cartilage Oligomeric Matrix Protein
Chromosome Mapping
Chromosomes, Human, Pair 19
DNA Primers
Exons
Extracellular Matrix Proteins
Female
Glycoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

In Situ Hybridization, Fluorescence

Male

Matrilin Proteins

Molecular Sequence Data

Mutation

Pedigree

Source

Open in PubMed

Identifiers

PMID: 7670471
DOI: 10.1038/ng0795-325

Genes

COMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7670471-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.PMID 7670471Read ↗

Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia.Semantic proximity Read ↗

Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.Semantic proximity Read ↗

Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia.Semantic proximity Read ↗

A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.Semantic proximity Read ↗

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.Semantic proximity Read ↗

A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia.Semantic proximity Read ↗

Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.Semantic proximity Read ↗

Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.Semantic proximity Read ↗

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Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group.Semantic proximity Read ↗

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.Semantic proximity Read ↗

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.Semantic proximity Read ↗

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