Molecular‐pathogenetic classification of genetic disorders of the skeleton

A Superti‐Furga, L Bonafé… - American journal of …, 2001 - Wiley Online Library
A Superti‐Furga, L Bonafé, DL Rimoin
American journal of medical genetics, 2001Wiley Online Library
Genetic disorders of the skeleton (skeletal dysplasias and dysostoses) are a large and
disparate group of diseases whose unifying features are malformation, disproportionate
growth, and deformation of the skeleton or of individual bones or groups of bones. To cope
with the large number of different disorders, the “Nosology and Classification of the
Osteochondrodysplasias,” based on clinical and radiographic features, has been designed
and revised periodically. Biochemical and molecular features have been partially …
Abstract
Genetic disorders of the skeleton (skeletal dysplasias and dysostoses) are a large and disparate group of diseases whose unifying features are malformation, disproportionate growth, and deformation of the skeleton or of individual bones or groups of bones. To cope with the large number of different disorders, the “Nosology and Classification of the Osteochondrodysplasias,” based on clinical and radiographic features, has been designed and revised periodically. Biochemical and molecular features have been partially implemented in the Nosology, but the rapid accumulation of knowledge on genes and proteins cannot be easily merged into the clinical–radiographic classification. We present here, as a complement to the existing Nosology, a classification of genetic disorders of the skeleton based on the structure and function of the causative genes and proteins. This molecular–pathogenetic classification should be helpful in recognizing metabolic and signaling pathways relevant to skeletal development, in pointing out candidate genes and possible therapeutic targets, and more generally in bringing the clinic closer to the basic science laboratory and in promoting research in this field. © 2002 Wiley‐Liss, Inc.
Wiley Online Library