Novel COL1A1 Mutation c.3290G>T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus. (September 2017)

• Record Type: Journal Article
• Authors: Tanner, Laura; Vainio, Paula; Sandell, Minna; Laine, Jukka
• Is Part Of: Pediatric and developmental pathology. Volume 20:Number 5(2017)
• Page Start: 455
• Page End: 459
• Publication Date: 2017-09
• Subjects: skeletal dysplasia -- osteogenesis imperfecta -- prenatal diagnosis -- type I collagen -- COL1A1 -- mutation; Pediatric pathology -- Periodicals; Children -- Diseases -- Periodicals; Diagnosis, Laboratory -- Periodicals; Abnormalities, Human -- Periodicals; Child development -- Periodicals; Pediatrics -- Periodicals; 616.07
• DOI: 10.1177/1093526616686903
• Languages: English
• ISSNs: 1093-5266

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.