1. ¹INSERM U781, Genetic Department, AP-HP Necker-Enfants Malades Hospital, Paris, France
2. ²Hospices Civils de Lyon, Cytogenetic Department, Edouard HERRIOT Hospital, Lyon, France
3. ³INSERM U676, Department of Medical Genetics, AP-HP Robert DEBRE University Hospital, Paris, France

Correspondence: Professor A Verloes, Département de Génétique, Hôpital Robert Debré, 48 Boulevard Sérurier, 75935, Paris Cedex 19, France. Tel: +33 1 4003 5342; Fax: +33 1 4003 5344; E-mail: alain.verloes@rdb.aphp.fr

Received 24 January 2006; Revised 25 October 2006; Accepted 21 November 2006; Published online 14 February 2007.

Abstract

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.