Sensorineural hearing loss is a heterogeneous disease caused by mutations in many genes. However, in the presence of enlarged vestibular aqueduct, it is frequently associated with mutations in the solute carrier family 26 member 4 (SLC26A4), a gene causative of a syndromic form (Pendred) as well as a non-syndromic form of hearing loss (DFNB4). We describe a clinical case presenting bilateral sensorineural hearing loss and enlarged vestibular aqueduct in which a novel homozygous SLC26A4 mutation was identified. Despite a late diagnosis of hearing loss, a peculiar rehabilitation therapy strategy was identified that provided excellent results.

Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report / Malesci, R.; Russo, R.; Monzillo, C.; Laria, C.; Corvino, V.; Auletta, G.; Iolascon, A.; Franze, A.. - In: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. - ISSN 0165-5876. - 134:(2020), p. 110018. [10.1016/j.ijporl.2020.110018]

Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report

Malesci R.;Russo R.;Monzillo C.;Laria C.;Auletta G.;Iolascon A.;Franze A.
2020

Abstract

Sensorineural hearing loss is a heterogeneous disease caused by mutations in many genes. However, in the presence of enlarged vestibular aqueduct, it is frequently associated with mutations in the solute carrier family 26 member 4 (SLC26A4), a gene causative of a syndromic form (Pendred) as well as a non-syndromic form of hearing loss (DFNB4). We describe a clinical case presenting bilateral sensorineural hearing loss and enlarged vestibular aqueduct in which a novel homozygous SLC26A4 mutation was identified. Despite a late diagnosis of hearing loss, a peculiar rehabilitation therapy strategy was identified that provided excellent results.
2020
Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report / Malesci, R.; Russo, R.; Monzillo, C.; Laria, C.; Corvino, V.; Auletta, G.; Iolascon, A.; Franze, A.. - In: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. - ISSN 0165-5876. - 134:(2020), p. 110018. [10.1016/j.ijporl.2020.110018]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/828926
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