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

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 co...

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Veröffentlicht in:	Pediatric and developmental pathology 2017-09, Vol.20 (5), p.455-459
Hauptverfasser:	Tanner, Laura, Vainio, Paula, Sandell, Minna, Laine, Jukka
Format:	Artikel
Sprache:	eng
Schlagworte:	Abortion, Eugenic Collagen Type I - genetics Genetic Markers Humans Osteogenesis Imperfecta - diagnosis Osteogenesis Imperfecta - genetics Point Mutation Prenatal Diagnosis Severity of Illness Index
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creator	Tanner, Laura Vainio, Paula Sandell, Minna Laine, Jukka
description	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.
doi_str_mv	10.1177/1093526616686903
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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.</abstract><cop>Los Angeles, CA</cop><pub>SAGE Publications</pub><pmid>28812463</pmid><doi>10.1177/1093526616686903</doi><tpages>5</tpages></addata></record>
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subjects	Abortion, Eugenic Collagen Type I - genetics Genetic Markers Humans Osteogenesis Imperfecta - diagnosis Osteogenesis Imperfecta - genetics Point Mutation Prenatal Diagnosis Severity of Illness Index
title	Novel COL1A1 Mutation c.3290G>T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus
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