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Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings


Rohrbach, Marianne; Giunta, Cecilia (2012). Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 160C(3):175-189.

Abstract

Osteogenesis imperfecta (OI) or "brittle bone disease" is currently best described as a group of hereditary connective tissue disorders related to primary defects in type I procollagen, and to alterations in type I procollagen biosynthesis, both associated with osteoporosis and increased susceptibility to bone fractures. Initially, the autosomal dominant forms of OI, caused by mutations in either COL1A1 or COL1A2, were described. However, for decades, the molecular defect of a small percentage of patients clinically diagnosed with OI has remained elusive. It has been in the last 6 years that the genetic causes of several forms of OI with autosomal recessive inheritance have been characterized. These comprise defects of collagen chaperones, and proteins involved in type I procollagen assembly, processing and maturation, as well as proteins involved in the formation and homeostasis of bone tissue. This article reviews the recently characterized forms of recessive OI, focusing in particular on their clinical and molecular findings, and on their radiological characterisation. Clinical management and treatment of OI in general will be discussed, too.

Abstract

Osteogenesis imperfecta (OI) or "brittle bone disease" is currently best described as a group of hereditary connective tissue disorders related to primary defects in type I procollagen, and to alterations in type I procollagen biosynthesis, both associated with osteoporosis and increased susceptibility to bone fractures. Initially, the autosomal dominant forms of OI, caused by mutations in either COL1A1 or COL1A2, were described. However, for decades, the molecular defect of a small percentage of patients clinically diagnosed with OI has remained elusive. It has been in the last 6 years that the genetic causes of several forms of OI with autosomal recessive inheritance have been characterized. These comprise defects of collagen chaperones, and proteins involved in type I procollagen assembly, processing and maturation, as well as proteins involved in the formation and homeostasis of bone tissue. This article reviews the recently characterized forms of recessive OI, focusing in particular on their clinical and molecular findings, and on their radiological characterisation. Clinical management and treatment of OI in general will be discussed, too.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:August 2012
Deposited On:20 Feb 2013 13:59
Last Modified:05 Apr 2016 16:31
Publisher:Wiley-Blackwell
ISSN:1552-4868
Publisher DOI:https://doi.org/10.1002/ajmg.c.31334
PubMed ID:22791419

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