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

Katre Maasalu; Tiit Nikopensius; Sulev Kõks; Margit Nõukas; Mart Kals; Ele Prans; Lidiia Zhytnik; Andres Metspalu; Aare Märtson

doi:10.1186/s40246-015-0028-0

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

Katre Maasalu, Tiit Nikopensius, Sulev Kõks, Margit Nõukas, Mart Kals, Ele Prans, Lidiia Zhytnik, Andres Metspalu, Aare Märtson

Research output: Contribution to journal › Article › Academic › peer-review

11 Citations (Scopus)

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.

Original language	English
Pages (from-to)	6
Journal	Human genomics
Volume	9
DOIs	https://doi.org/10.1186/s40246-015-0028-0
Publication status	Published - 2015
Externally published	Yes

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

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.",

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volume = "9",

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T1 - Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta

AU - Maasalu, Katre

AU - Nikopensius, Tiit

AU - Kõks, Sulev

AU - Nõukas, Margit

AU - Kals, Mart

AU - Prans, Ele

AU - Zhytnik, Lidiia

AU - Metspalu, Andres

AU - Märtson, Aare

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84979862329&origin=inward

UR - https://www.ncbi.nlm.nih.gov/pubmed/25958000

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DO - 10.1186/s40246-015-0028-0

M3 - Article

C2 - 25958000

SN - 1473-9542

VL - 9

SP - 6

JO - Human genomics

JF - Human genomics

ER -

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

Abstract

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