Novel COL1A1 Mutation c.3290G > T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus

被引：5

作者：

Tanner, Laura ^{[1
,2
]}

Vainio, Paula ^{[3
,4
]}

Sandell, Minna ^{[5
,6
]}

Laine, Jukka ^{[3
,4
]}

机构：

[1] Turku Univ Hosp, Dept Clin Genet, POB 52, FI-20521 Turku, Finland

[2] Univ Turku, Dept Med Biochem & Genet, Turku, Finland

[3] Univ Turku, Dept Pathol, Turku, Finland

[4] Publ Util Tyks Sapa, Pathol Unit, Turku, Finland

[5] Univ Turku, Dept Radiol, Turku, Finland

[6] Publ Util Tyks Sapa, Radiol Unit, Turku, Finland

来源：

PEDIATRIC AND DEVELOPMENTAL PATHOLOGY | 2017年 / 20卷 / 05期

关键词：

skeletal dysplasia; osteogenesis imperfecta; prenatal diagnosis; type I collagen; COL1A1; mutation; I COLLAGEN; PHENOTYPE;

D O I：

10.1177/1093526616686903

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Osteogenesis imperfecta is a genetically and clinically heterogenous group of skeletal dysplasias characterized by bone fragility. Its severity ranges from nearly asymptomatic individuals to perinatal lethality. The majority of cases are caused by mutations in either the COL1A1 or the COL1A2 gene coding for alpha 1 and alpha 2 chains of collagen type 1, respectively, and a large number of pathogenic variants of these genes has been identified. We describe a novel COL1A1 mutation associated with prenatally diagnosed severe form of osteogenesis imperfecta.

引用

页码：455 / 459

页数：5

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Novel COL1A1 Mutation c.3290G &gt; T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus

Novel COL1A1 Mutation c.3290G > T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus