Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta

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• 作者：Katre Maasalu ; Tiit Nikopensius ; Sulev Kõks ; Margit Nõukas ; Mart Kals…
• 关键词：Osteogenesis imperfecta ; Type I collagen ; OI genotype–phenotype ; COL1A1 ; De novo mutation
• 刊名：Human Genomics
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：9
• 期：1
• 全文大小：805 KB
• 刊物主题：Human Genetics; Proteomics; Bioinformatics;
• 出版者：BioMed Central
• ISSN：1479-7364

文摘

Background Osteogenesis imperfecta (OI) comprises a clinically and genetically heterogeneous group of connective tissue disorders, characterized by low bone mass, increased bone fragility, and blue-gray eye sclera. OI often results from missense mutations in one of the conserved glycine residues present in the Gly-X-Y sequence repeats of the triple helical region of the collagen type I α chain, which is encoded by the COL1A1 gene. The aim of the present study is to describe the phenotype of OI II patient and a novel mutation, causing current phenotype.