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.

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome

GHIRRI, PAOLO;IACOPETTI, PAOLA;FORLI, FRANCESCA;BERRETTINI, STEFANO;BOLDRINI, ANTONIO;PELLEGRINI, SILVIA
2010

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.
Michelucci, A; Ghirri, Paolo; Iacopetti, Paola; Conidi, Me; Fogli, A; Baldinotti, F; Lunardi, S; Forli, Francesca; Moscuzza, F; Berrettini, Stefano; Boldrini, Antonio; Simi, P; Pellegrini, Silvia
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11568/204621
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