A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

Osteogenesis imperfecta (OI) is an inherited genetic disorder characterized by frequent bone fractures and reduced bone mass. Most cases of OI are caused by dominantly inherited heterozygous mutations in one of the two genes encoding type I collagen, COL1A1 and COL1A2. Here we describe a five-year-o...

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Bibliographic Details
Main Authors: Ahmed El-Gazzar, Johannes A. Mayr, Barbara Voraberger, Karin Brugger, Stéphane Blouin, Katharina Tischlinger, Hans-Christoph Duba, Holger Prokisch, Nadja Fratzl-Zelman, Wolfgang Högler
Format: Article
Language:English
Published: Elsevier 2021-12-01
Series:Bone Reports
Subjects:
Bone fragility
Type I collagen
Osteogenesis imperfecta
Cryptic splice site
Mutation
Whole exome sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187221003661

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http://www.sciencedirect.com/science/article/pii/S2352187221003661

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