Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 240-244, 2015.
Article
in Chinese
| WPRIM
| ID: wpr-239495
ABSTRACT
<p><b>OBJECTIVE</b>To 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.</p><p><b>METHODS</b>Complete 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.</p><p><b>RESULTS</b>All 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.</p><p><b>CONCLUSION</b>The mutation c.2224G>A (p.Gly687Ser) of the COL2A1 gene is responsible for this family. There are heterozygous of phenotype for the mutation.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Osteochondrodysplasias
/
Pedigree
/
Molecular Sequence Data
/
Base Sequence
/
China
/
Point Mutation
/
Mutation, Missense
/
Collagen Type II
/
Asian People
/
Genetics
Limits:
Adolescent
/
Adult
/
Aged
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2015
Type:
Article
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