title: Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.
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.
authors.affiliation: Servizio di Audiologia e Foniatria, Dipartimento Specialità Medico-Chirurgiche, University of Padua, Via Giustiniani, 2, 35128 Padova, Italy. elona.cama@unipd.it
authors.forename: Elona
authors.initials: E
authors.lastname: Cama
authors.forename: Maria Stella
authors.initials: MS
authors.lastname: Alemanno
authors.forename: Emanuele
authors.initials: E
authors.lastname: Bellacchio
authors.forename: Rosamaria
authors.initials: R
authors.lastname: Santarelli
authors.forename: Massimo
authors.initials: M
authors.lastname: Carella
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Zelante
authors.forename: Teresa
authors.initials: T
authors.lastname: Palladino
authors.forename: Ingrid
authors.initials: I
authors.lastname: Inches
authors.forename: Francesco
authors.initials: F
authors.lastname: di Paola
authors.forename: Edoardo
authors.initials: E
authors.lastname: Arslan
authors.forename: Salvatore
authors.initials: S
authors.lastname: Melchionda
mesh_terms: D000293:Adolescent; D005260:Female; D005500:Follow-Up Studies; D006044:Goiter, Nodular / Q000175:diagnosis / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging / Q000379:methods; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D012720:Severity of Illness Index; D000076988:Sulfate Transporters; D014057:Tomography, X-Ray Computed / Q000379:methods
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters