Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia

Hae Ryong Song, Kwang Soo Lee, Qi Wei Li, Soo Kyung Koo, Sung Chul Jung

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

Mutations in the cartilage oligomeric matrix protein (COMP) gene are responsible for two dominantly inherited skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). Mutation analysis of the COMP gene in Korean patients with PSACH and MED was performed. All nine patients with PSACH had mutations in the COMP gene, while three of the five patients with MED had detectable COMP mutations. Eight mutations, including three novel mutations, were identified in the COMP gene in the patients with PSACH and MED. Six mutations were found within the calmodulin-like repeats (CLRs) domain, especially in the seventh CLR and the other two mutations were in exon 16 outside of CLRs, which encode the C-terminal globular domain. Among the three novel mutations, two were missense mutations (Asp473Tyr, Asp482His) and one was a consecutive two-codon deletion, delAspAsp(469-473) in the five consecutive aspartic acid residues. All three novel mutations produced the PSACH phenotype.

Original languageEnglish
Pages (from-to)222-225
Number of pages4
JournalJournal of Human Genetics
Volume48
Issue number5
DOIs
Publication statusPublished - 2003

Keywords

  • COMP
  • Cartilage oligomeric matrix protein
  • MED
  • Multiple epiphyseal dysplasia
  • Mutation
  • PSACH
  • Pseudoachondroplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia'. Together they form a unique fingerprint.

  • Cite this