Review Article

Genotypes and Clinical Phenotypes of Osteogenesis Imperfecta

Konstantina Kontoula¹, Erato Atsali², Symeon Tournis³, Anna Papadopoulou¹

1. Laboratory of Clinical Biochemistry, University General Hospital “ATTIKON”, Medical School, National and Kapodistrian University of Athens, Athens, Greece
2. 3^rd Department of Pediatrics, University General Hospital “ATTIKON”, Medical School, National and Kapodistrian University of Athens, Athens, Greece
3. Laboratory for the Research of Musculoskeletal System “Th. Garofalidis,” Medical School National and Kapodistrian University of Athens, KAT Hospital, Athens, Greece

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Keywords: Bone, Collagen type I, Fragility, Genetics, Osteogenesis imperfecta

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Abstract

Osteogenesis Imperfecta (OI) is a rare genetic disorder clinically characterized by skeletal and bone deformity, low bone mass, impaired bone strength, connective tissue symptoms and several extraskeletal symptoms. Mutations in the two genes that encode type I collagen are the most common cause of OI. During the last decade, numerous novel causative genes involved in collagen biosynthesis, modification, and secretion, osteoblast development and function, and bone homeostasis have been linked to recessive and dominant forms of OI. As a result, OI has evolved into a group of hereditary disorders that shed light on the factors that influence both quantity and quality of bone. In this review the molecular genetics and the clinical phenotypes of all types of OI are described.

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