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Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss |
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| Authors: | Elona Cama Maria Stella Alemanno Rosamaria Santarelli Leopoldo Zelante Ingrid Inches Edoardo Arslan |
| Affiliation: | a Servizio di Audiologia e Foniatria, Dipartimento Specialità Medico-Chirurgiche, University of Padua, Via Giustiniani, 2, 35128 Padova, Italy b Servizio di Genetica Medica, IRCCS-Ospedale Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy c IRCSS Casa Sollievo della Sofferenza - Istituto Mendel, Viale Regina Margherita, 261 00198 Roma, Italy d Dipartimento di Radiologia Clinica, Unità Operativa di Neuroradiologia, Ospedale Generale “Cà Foncello” P.za Ospedale, 1 31100 Treviso, Italy |
| Abstract: | Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goitre and defective iodide organification. Congenital and profound hearing loss is the hallmark of the syndrome, while goitre and thyroid dysfunction are highly variable even within the same family. Clinical features are due to altered formation of pendrin, a chloride/iodide transporter protein expressed in the inner ear, thyroid gland and kidney. A novel substitution was found in exon 7 of the pendrin encoding gene (SLC26A4) that leads to a stop codon, S314X. The new variation was found in compound heterozygosity with L445W mutation in a hearing impaired patient with bilateral Mondini's dysplasia and goitre. |
| Keywords: | Autosomal recessive hearing loss Enlarged vestibular aqueduct Novel mutation SLC26A4 Pendred syndrome |
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