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  • Title: [Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita].
    Author: Li H, Ji A, Ma L, Wang B, Li Y, Cui Y.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Apr; 32(2):240-4. PubMed ID: 25863096.
    Abstract:
    OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: The mutation c.2224G>A (p.Gly687Ser) of the COL2A1 gene is responsible for this family. There are heterozygous of phenotype for the mutation.
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