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Article

A mutation in cartilage oligomeric matrix protein (COMP) causes early-onset osteoarthritis in a large kindred study.

Annals of human genetics - 1 Sept 2011

Mu Shu-Chi, Lin Yi-Jung, Liu Hwa-Chang, Wu Jer-Yuarn, Li Sing-Chung, Michael Lee Ming-Ta, Chou Ching-Heng, Chen Liang-Kuang, Chen Yuan-Tsong

Abstract excerpt

We performed a genome-wide linkage analysis to identify susceptibility loci in a large six-generation extended family previously reported with early-onset osteoarthritis (OA) DNA sequencing was performed to investigate involvement of the COMP (Cartilage oligomeric matrix protein) gene in this family. The region covering D19S884, D19S226, and D19S414 on chromosome 19p following genome-wide scan from 70 individuals...

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Identifiers

PMID: 21834907
DOI: 10.1111/j.1469-1809.2011.00667.x

Genes

COMP

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A mutation in cartilage oligomeric matrix protein (COMP) causes early-onset osteoarthritis in a large kindred study.PMID 21834907Read ↗

Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature.Semantic proximity Read ↗

Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints.Semantic proximity Read ↗

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

A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.Semantic proximity Read ↗

A Novel COMP Mutation in a Chinese Family with Multiple Epiphyseal DysplasiaSemantic proximity Read ↗

Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations of COMP defects.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 ↗

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

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

[A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia].Semantic proximity Read ↗

Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.Semantic proximity Read ↗

Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.Semantic proximity Read ↗

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