[A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):322-5. doi: 10.3760/cma.j.issn.1003-9406.2013.03.016.
[Article in Chinese]

Abstract

Objective: To perform mutation analysis for a female with multiple epiphyseal dysplasia (MED) and provide pre-symptomatic and prenatal diagnosis.

Methods: Mutation screening of cartilage oligomeric matrix protein (COMP) gene was carried out through targeted next-generation DNA sequencing and Sanger sequencing.

Results: A novel c.956 A>T resulting in substitution of Aspartic acid 319 for Valine (p.Asp319Val) has been identified in exon 9 of the COMP gene in the patient. As predicted by a SIFT software, above mutation can cause damage to the structure of COMP protein.

Conclusion: A novel c.956 A>T substitution mutation has been identified in a patient featuring MED.

Publication types

  • Case Reports
  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Cartilage Oligomeric Matrix Protein
  • Exons
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Glycoproteins / genetics*
  • Humans
  • Matrilin Proteins
  • Mutation*
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics*
  • Polymorphism, Single Nucleotide
  • Sequence Alignment

Substances

  • Cartilage Oligomeric Matrix Protein
  • Extracellular Matrix Proteins
  • Glycoproteins
  • Matrilin Proteins
  • TSP5 protein, human