Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.

PURPOSE: To present three identified novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita (SEDC) in three unrelated Chinese families, and perform analysis regarding the clinical and genetic features of SEDC in the Chinese population through assessment of the literature.

METHODS: Medical history, physical examination, radiographic and laboratory tests were obtained from three Chinese clinically diagnosed SEDC patients. PCR technique and direct nucleotide sequencing were conducted to identify mutations in the COL2A1 gene. The protein functions of all the missense mutations were predicted by SIFT and Polyphen-2. Contrast analysis of Chinese SEDC cases were performed through the literature retrieval of the HGMD BIOBASE and PubMed database.

RESULTS: Three novel heterozygous missense mutations (Gly537Asp, Gly909Ser, and Gly1149Val) in the COL2A1 gene were detected in this study. Literature review discovered a total of 15 COL2A1 mutations in Chinese SEDC patients. We analyzed the clinical features, mutation characteristics and explored the genotype-phenotype correlation of these Chinese SEDC cases.

CONCLUSIONS: Our study contributed to the further expansion of the COL2A1 mutation spectrum and provided more information concerning SEDC in the Chinese population through literature review.