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

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Item Type:	Tesi di dottorato
Resource language:	English
Title:	Characterization of the forms of hearing loss associated with malformation of the inner ear
Creators:	Creators Email Corvino, Virginia virginiacorvino@virgilio.it
Date:	7 June 2018
Number of Pages:	39
Institution:	Università degli Studi di Napoli Federico II
Department:	dep16
Dottorato:	phd058
Ciclo di dottorato:	29
Coordinatore del Corso di dottorato:	nome email Taglialatela, Maurizio mtaglial@unina.it
Tutor:	nome email Marciano, Elio UNSPECIFIED
Date:	7 June 2018
Number of Pages:	39
Keywords:	hearing loss; pendred
Settori scientifico-disciplinari del MIUR:	Area 06 - Scienze mediche > MED/32 - Audiologia
Date Deposited:	18 Jun 2018 07:30
Last Modified:	15 Apr 2019 11:02
URI:	http://www.fedoa.unina.it/id/eprint/12297

Collection description

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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