Identification of a novel COL2A1 variant in a pedigree affected with spondyloepiphyseal dysplasia congenita.
10.3760/cma.j.issn.1003-9406.2019.07.009
- VernacularTitle:一个先天性脊柱骨骺发育不良家系的COL2A1基因变异分析
- Author:
Yuxian WANG
1
;
Han XIAO
;
Zhe WANG
;
Na ZHAO
;
Yu XUE
Author Information
1. Department of Obstetrics, The First Hospital of Shanxi Medical University, Taiyuan, Shanxi 030001, China. wzwade@qq.com.
- Publication Type:Journal Article
- MeSH:
Asian Continental Ancestry Group;
Collagen Type II;
genetics;
Humans;
Osteochondrodysplasias;
congenital;
genetics;
Pedigree
- From:
Chinese Journal of Medical Genetics
2019;36(7):694-696
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the molecular basis for a pedigree affected with spondyloepiphyseal dysplasia congenita (SEDC).
METHODS:The proband was subjected to whole exome sequencing. Suspected variant was verified by Sanger sequencing.
RESULTS:All patients from the pedigree were found to carry a novel missense variant c.1394G>C (p.Gly465Ala) of the COL2A1 gene. The variant was not reported previously. Provean, Polyphen-2 and Mutation Taster software predicted that the variant is highly likely to be pathogenic.
CONCLUSION:The c.1394G>C (p.Gly465Ala) variant of the COL2A1 gene probably underlies the SEDC in this pedigree.
