title: [A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia].
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.
  
  
  CONCLUSIONS
  A novel c.956 A>T substitution mutation has been identified in a patient featuring MED.
authors.affiliation: Center for Prenatal Diagnosis, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518048, P.R. China.
authors.forename: Hui
authors.initials: H
authors.lastname: Wang
authors.forename: Jiansheng
authors.initials: J
authors.lastname: Xie
authors.forename: Weiqing
authors.initials: W
authors.lastname: Wu
authors.forename: Zhiyong
authors.initials: Z
authors.lastname: Xu
authors.forename: Fuwei
authors.initials: F
authors.lastname: Luo
authors.forename: Qian
authors.initials: Q
authors.lastname: Geng
mesh_terms: D000328:Adult; D001483:Base Sequence; D064236:Cartilage Oligomeric Matrix Protein; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D064235:Matrilin Proteins; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human