Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita.
- Author:
Hongzhuo LI
1
;
Aifang JI
;
Liang MA
;
Baozhu WANG
;
Yuan LI
;
Yun CUI
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; Asian Continental Ancestry Group; genetics; Base Sequence; China; Collagen Type II; genetics; Female; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation, Missense; Osteochondrodysplasias; congenital; genetics; Pedigree; Point Mutation; Young Adult
- From: Chinese Journal of Medical Genetics 2015;32(2):240-244
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify potential disease-causing mutation in the COL2A1 gene in a Chinese family affected with autosomal dominant spondyloepiphyseal dysplasia congenita (SEDC; OMIM 183900) and to analyze the phenotype-genotype correlation.
METHODSComplete physical, and radiographic examinations of 4 affected individuals from the family were conducted. Genomic DNA was isolated from peripheral blood leukocytes. Whole-exome sequencing was performed using a HiSeq2000 sequencer. All 54 exons and exon-intron boundaries of the COL2A1 gene were amplified by polymerase chain reaction (PCR) and bidirectionally sequenced.
RESULTSAll of the 4 individuals were found to carry a novel missense mutation of c.2224G>A (p.Gly687Ser) in the COL2A1 gene, while the same mutation was not found in the normal members of the family and 50 healthy controls. Protein prediction of missense mutation by Polyphen-2 and SIFT software indicated severe damage to the function.
CONCLUSIONThe mutation c.2224G>A (p.Gly687Ser) of the COL2A1 gene is responsible for this family. There are heterozygous of phenotype for the mutation.
