A1 Refereed original research article in a scientific journal
Novel COL1A1 Mutation c.3290G > T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus
Authors: Tanner L, Vainio P, Sandell M, Laine J
Publisher: ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS
Publishing place: LAWRENCE
Publication year: 2017
Journal: Pediatric and Developmental Pathology
Journal name in source: PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
Journal acronym: PEDIATR DEVEL PATHOL
Volume: 20
Issue: 5
First page : 455
Last page: 459
Number of pages: 5
ISSN: 1093-5266
eISSN: 1615-5742
DOI: https://doi.org/10.1177/1093526616686903
Web address : 10.1177/1093526616686903
Abstract
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.
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.
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