title: Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.
abstract: CHARGE syndrome comprises ocular coloboma (C), heart malformation (H), choanal atresia (A), retardation of growth and/or anomalies of the central nervous system (R), genital anomalies (G) and ear anomalies (E). Prenatal diagnosis of CHARGE syndrome may be suspected in the presence of specific major anomalies at ultrasound examination. We describe prenatal diagnosis of CHARGE syndrome confirmed by identification of a mutation in CHD7 gene in a previously unaffected family.
authors.forename: Estelle
authors.initials: E
authors.lastname: Colin
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonneau
authors.forename: Francoise
authors.initials: F
authors.lastname: Boussion
authors.forename: Agnès
authors.initials: A
authors.lastname: Guichet
authors.forename: Benoit
authors.initials: B
authors.lastname: Delorme
authors.forename: Stéphane
authors.initials: S
authors.lastname: Triau
authors.forename: Phillippe
authors.initials: P
authors.lastname: Gillard
authors.forename: Alain
authors.initials: A
authors.lastname: Kitzis
authors.forename: Frederic
authors.initials: F
authors.lastname: Bilan
mesh_terms: D000328:Adult; D058747:CHARGE Syndrome / Q000175:diagnosis* / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human