Corvino, Virginia (2018) Characterization of the forms of hearing loss associated with malformation of the inner ear. [Tesi di dottorato]

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Tipologia del documento:	Tesi di dottorato
Lingua:	English
Titolo:	Characterization of the forms of hearing loss associated with malformation of the inner ear
Autori:	Autore Email Corvino, Virginia virginiacorvino@virgilio.it
Data:	7 Giugno 2018
Numero di pagine:	39
Istituzione:	Università degli Studi di Napoli Federico II
Dipartimento:	dep16
Dottorato:	phd058
Ciclo di dottorato:	29
Coordinatore del Corso di dottorato:	nome email Taglialatela, Maurizio mtaglial@unina.it
Tutor:	nome email Marciano, Elio [non definito]
Data:	7 Giugno 2018
Numero di pagine:	39
Parole chiave:	hearing loss; pendred
Settori scientifico-disciplinari del MIUR:	Area 06 - Scienze mediche > MED/32 - Audiologia
Depositato il:	18 Giu 2018 07:30
Ultima modifica:	15 Apr 2019 11:02
URI:	http://www.fedoa.unina.it/id/eprint/12297

Abstract

The aim of my PhD it was the characterization of the forms of hearing loss associated with malformation of the inner ear. In the frist period it has been done the molecular and clinical characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss, mental retardation, choroideremia and hypotonia (Chapter1). In the second period, it has been done a study of SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian patients with sensorineural hearing loss (Chapter 2). Enlargement of the vestibular aqueduct (EVA) is a rather common inner ear malformation in subjects affected by Sensorineural hearing loss(SNHL). Finally, since it has been demonstrated, both from our data and from the data reported in the literature, the association between EVA and SLC26A4 gene mutation, in the last period, we focused on the patients who had already carried out the radiological investigations, which were then subjected to molecular investigations for Pendred's syndrome, and a mutation was found, that had never been described in literature in the past (Chapter 3).

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