A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Novel COL1A1 Mutation c.3290G > T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus
Tekijät: Tanner L, Vainio P, Sandell M, Laine J
Kustantaja: ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS
Kustannuspaikka: LAWRENCE
Julkaisuvuosi: 2017
Journal: Pediatric and Developmental Pathology
Tietokannassa oleva lehden nimi: PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
Lehden akronyymi: PEDIATR DEVEL PATHOL
Vuosikerta: 20
Numero: 5
Aloitussivu: 455
Lopetussivu: 459
Sivujen määrä: 5
ISSN: 1093-5266
eISSN: 1615-5742
DOI: https://doi.org/10.1177/1093526616686903
Verkko-osoite: 10.1177/1093526616686903
Tiivistelmä
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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