Journal article
Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta
Human Genomics, Vol.9(1)
2015
Abstract
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.
Results
We report an undescribed de novo COL1A1 mutation in a patient affected by severe OI. After performing the whole-exome sequencing in a case parent–child trio, we identified a novel heterozygous c.2317G > T missense mutation in the COL1A1 gene, which leads to p.Gly773Cys transversion in the triple helical domain of the collagen type I α chain. The presence of the missense mutation was confirmed with the Sanger sequencing.
Conclusions
Hereby, we report a novel mutation in the COL1A1 gene causing severe, life threatening OI and indicate the role of de novo mutation in the pathogenesis of rare familial diseases. Our study underlines the importance of exome sequencing in disease gene discovery for families where conventional genetic testing does not give conclusive evidence.
Details
- Title
- Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta
- Authors/Creators
- K. Maasalu (Author/Creator) - Tartu University HospitalT. Nikopensius (Author/Creator) - University of TartuS. Kõks (Author/Creator) - University of TartuM. Nõukas (Author/Creator) - University of TartuM. Kals (Author/Creator) - University of TartuE. Prans (Author/Creator) - University of TartuL. Zhytnik (Author/Creator) - University of TartuA. Metspalu (Author/Creator) - University of TartuA. Märtson (Author/Creator) - University of Tartu
- Publication Details
- Human Genomics, Vol.9(1)
- Publisher
- BioMed Central
- Identifiers
- 991005542809407891
- Copyright
- © 2015 Maasalu et al.
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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InCites Highlights
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- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.132 Extracellular Matrix & Cell Differentiation
- 1.132.1065 Collagen Disorders
- Web Of Science research areas
- Genetics & Heredity
- ESI research areas
- Molecular Biology & Genetics