Towards a new classification of ectodermal dysplasias.
Ectodermal dysplasias (EDs) constitute a large and complex group of diseases characterized by various defects in hair, nails, teeth and sweat glands. Of the 170 EDs described so far, fewer than 30 have been explained at the molecular level with identification of the causative gene. This review proposes a new classification of EDs based on the function of the protein encoded by the mutated gene. The EDs are reviewed in light of the recent molecular and biochemical findings and an attempt is made to classify ED causative genes into four major functional subgroups: cell-cell communication and signalling; adhesion; transcription regulation; and development.
Lamartine
J
J
Université d'Evry Val d'Essonne, Evry, France. jerome.lamartine@cea.fr
D002448:Cell Adhesion / Q000235:genetics; D002450:Cell Communication / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000145:classification* / Q000235:genetics; D006201:Hair Diseases / Q000145:classification / Q000235:genetics; D006801:Humans; D009260:Nail Diseases / Q000145:classification / Q000235:genetics; D013543:Sweat Gland Diseases / Q000145:classification / Q000235:genetics; D014071:Tooth Abnormalities / Q000235:genetics; D014158:Transcription, Genetic