title: A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.
abstract: CHARGE syndrome (MIM#214800) (Coloboma, Heart defect, Atresia of choanae, Retarded growth and development, Genital hypoplasia, Ear abnormalities/deafness) is caused by heterozygous mutation of CHD7 transmitted in an autosomal dominant manner. In this report, we describe a patient with bilateral hearing impairment, unusually-shaped ears, no intellectual disability and a patent ductus arteriosus. Further investigation showed abnormal semicircular canals and the presence of olfactory bulbs. He does not fulfill the Blake or the Verloes criteria for CHARGE. A de novo mutation at the donor splice site of intron 33 was identified (c.7164 + 1G > A). It is of importance to diagnose mildly affected patients for appropriate genetic counselling and to better understand the mild end of the phenotypic spectrum of CHARGE syndrome.
authors.affiliation: Service d'Histologie, Embryologie et Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Constance
authors.initials: C
authors.lastname: Wells
authors.affiliation: Service d'ORL, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Natalie
authors.initials: N
authors.lastname: Loundon
authors.affiliation: Service d'ORL, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Noël
authors.initials: N
authors.lastname: Garabedian
authors.affiliation: Service d'ORL, Hôpital Robert Debré, Paris, France.
authors.forename: Sylvette
authors.initials: S
authors.lastname: Wiener-Vacher
authors.affiliation: Service de Radiologie, Hôpital Trousseau, Paris, France.
authors.forename: Marie-Dominique
authors.initials: MD
authors.lastname: Cordier-Bouvier
authors.affiliation: Service d'Histologie, Embryologie et Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Géraldine
authors.initials: G
authors.lastname: Goudeffroye
authors.affiliation: Service d'Histologie, Embryologie et Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France; Université Paris Descartes, Sorbonne Paris-Cité, Paris, France.
authors.forename: Tania
authors.initials: T
authors.lastname: Attié-Bitach
authors.affiliation: Centre de référence des surdités génétiques, Service de Génétique, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France. Electronic address: sandrine.marlin@aphp.fr.
authors.forename: Sandrine
authors.initials: S
authors.lastname: Marlin
mesh_terms: D058747:CHARGE Syndrome / Q000235:genetics* / Q000473:pathology; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004373:Ductus Arteriosus / Q000473:pathology; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000473:pathology; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D022821:RNA Splice Sites / Q000235:genetics; D012665:Semicircular Canals / Q000473:pathology
chemical_list: D004268:DNA-Binding Proteins; D022821:RNA Splice Sites; D004265:DNA Helicases; C491434:CHD7 protein, human
keywords: CHARGE; CHD7; Semicircular canal malformation; Sensorineural hearing impairment