CHARGE syndrome: an update.
CHARGE syndrome is a rare, usually sporadic autosomal dominant disorder due in 2/3 of cases to mutations within the CHD7 gene. The clinical definition has evolved with time. The 3C triad (Coloboma-Choanal atresia-abnormal semicircular Canals), arhinencephaly and rhombencephalic dysfunctions are now considered the most important and constant clues to the diagnosis. We will discuss here recent aspects of the phenotypic delineation of CHARGE syndrome and highlight the role of CHD7 in its pathogeny. We review available data on its molecular pathology as well as cytogenetic and molecular evidences for genetic heterogeneity within CHARGE syndrome.
Sanlaville
Damien
D
INSERM U781, Genetic Department, AP-HP Necker-Enfants Malades Hospital, Paris, France.
Verloes
Alain
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D002493:Central Nervous System Diseases / Q000151:congenital; D002754:Choanal Atresia / Q000235:genetics; D025063:Chromosome Disorders / Q000235:genetics*; D003103:Coloboma / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000151:congenital / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D016142:Holoprosencephaly / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D015837:Vestibular Diseases / Q000151:congenital / Q000235:genetics
D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human