Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.
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.
Cama
Elona
E
Servizio di Audiologia e Foniatria, Dipartimento Specialità Medico-Chirurgiche, University of Padua, Via Giustiniani, 2, 35128 Padova, Italy. elona.cama@unipd.it
Alemanno
Maria Stella
MS
Bellacchio
Emanuele
E
Santarelli
Rosamaria
R
Carella
Massimo
M
Zelante
Leopoldo
L
Palladino
Teresa
T
Inches
Ingrid
I
di Paola
Francesco
F
Arslan
Edoardo
E
Melchionda
Salvatore
S
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
D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters