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.

Links

Publisher Full Text

Authors

Rohrbach M, Giunta C

Institution

Connective Tissue Unit, Division of Metabolism, University Children's Hospital and Children's Research Center, Zurich, Switzerland.

Source

American journal of medical genetics. Part C, Seminars in medical genetics 160C:3 2012 Aug 15 pg 175-89

MeSH

Biological Markers
Diagnosis, Differential
Fractures, Bone
Genes, Recessive
Humans
Osteogenesis Imperfecta

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

22791419