CHARGE syndrome is an autosomal dominant disorder characterized by features represented in its acronym: Coloboma, Heart defect, Atresia of the choanae, Retarded growth and development, Genital abnormalities, Ear anomalies/deafness. We report two patients with a diagnosis of typical CHARGE syndrome and one with atypical clinical diagnosis. All the three patients had uni- or bilateral choanal atresia and sensorineural hearing loss. The patients were screened for CHD7 gene mutations. Three novel occurring de novo heterozygous mutations were identified: a mutation in the donor splice site of intron 24, a missense mutation in exon 2 and a deletion in exon 11.
|Autori:||MICHELUCCI A; GHIRRI P; IACOPETTI P; CONIDI ME; FOGLI A; BALDINOTTI F; LUNARDI S; FORLI F; MOSCUZZA F; BERRETTINI S; BOLDRINI A; SIMI P; PELLEGRINI S|
|Titolo:||Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome|
|Anno del prodotto:||2010|
|Digital Object Identifier (DOI):||10.1016/j.ijporl.2010.09.006|
|Appare nelle tipologie:||1.1 Articolo in rivista|