A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia.
- Author:
Hui WANG
1
;
Jiansheng XIE
;
Weiqing WU
;
Zhiyong XU
;
Fuwei LUO
;
Qian GENG
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Base Sequence; Cartilage Oligomeric Matrix Protein; Exons; Extracellular Matrix Proteins; genetics; Female; Glycoproteins; genetics; Humans; Matrilin Proteins; Mutation; Osteochondrodysplasias; diagnosis; genetics; Polymorphism, Single Nucleotide; Sequence Alignment
- From: Chinese Journal of Medical Genetics 2013;30(3):322-325
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo perform mutation analysis for a female with multiple epiphyseal dysplasia (MED) and provide pre-symptomatic and prenatal diagnosis.
METHODSMutation screening of cartilage oligomeric matrix protein (COMP) gene was carried out through targeted next-generation DNA sequencing and Sanger sequencing.
RESULTSA 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.
CONCLUSIONA novel c.956 A>T substitution mutation has been identified in a patient featuring MED.
