Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4113747 | International Journal of Pediatric Otorhinolaryngology | 2010 | 4 Pages |
Abstract
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.
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Authors
Angela Michelucci, Paolo Ghirri, Paola Iacopetti, Maria Elena Conidi, Antonella Fogli, Fulvia Baldinotti, Sara Lunardi, Francesca Forli, Francesca Moscuzza, Stefano Berrettini, Antonio Boldrini, Paolo Simi, Silvia Pellegrini,