Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss

Elona Cama; Maria Stella Alemanno; Emanuele Bellacchio; Rosamaria Santarelli; Massimo Carella; Leopoldo Zelante; Teresa Palladino; Ingrid Inches; Francesco di Paola; Edoardo Arslan; Salvatore Melchionda

doi:10.1016/j.ijporl.2009.06.003

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss

Elona Cama, Maria Stella Alemanno, Emanuele Bellacchio, Rosamaria Santarelli, Massimo Carella, Leopoldo Zelante, Teresa Palladino, Ingrid Inches, Francesco di Paola, Edoardo Arslan, Salvatore Melchionda

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	1458-1463
Number of pages	6
Journal	International Journal of Pediatric Otorhinolaryngology
Volume	73
Issue number	10
DOIs	https://doi.org/10.1016/j.ijporl.2009.06.003
Publication status	Published - Oct 2009

Keywords

Autosomal recessive hearing loss
Enlarged vestibular aqueduct
Novel mutation
Pendred syndrome
SLC26A4

ASJC Scopus subject areas

Otorhinolaryngology
Pediatrics, Perinatology, and Child Health

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Cama, E., Alemanno, M. S., Bellacchio, E., Santarelli, R., Carella, M., Zelante, L., Palladino, T., Inches, I., di Paola, F., Arslan, E., & Melchionda, S. (2009). Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss. International Journal of Pediatric Otorhinolaryngology, 73(10), 1458-1463. https://doi.org/10.1016/j.ijporl.2009.06.003

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss. / Cama, Elona; Alemanno, Maria Stella; Bellacchio, Emanuele; Santarelli, Rosamaria; Carella, Massimo; Zelante, Leopoldo; Palladino, Teresa; Inches, Ingrid; di Paola, Francesco; Arslan, Edoardo; Melchionda, Salvatore.

In: International Journal of Pediatric Otorhinolaryngology, Vol. 73, No. 10, 10.2009, p. 1458-1463.

Research output: Contribution to journal › Article › peer-review

Cama, E, Alemanno, MS, Bellacchio, E, Santarelli, R, Carella, M, Zelante, L, Palladino, T, Inches, I, di Paola, F, Arslan, E & Melchionda, S 2009, 'Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss', International Journal of Pediatric Otorhinolaryngology, vol. 73, no. 10, pp. 1458-1463. https://doi.org/10.1016/j.ijporl.2009.06.003

Cama, Elona ; Alemanno, Maria Stella ; Bellacchio, Emanuele ; Santarelli, Rosamaria ; Carella, Massimo ; Zelante, Leopoldo ; Palladino, Teresa ; Inches, Ingrid ; di Paola, Francesco ; Arslan, Edoardo ; Melchionda, Salvatore. / Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss. In: International Journal of Pediatric Otorhinolaryngology. 2009 ; Vol. 73, No. 10. pp. 1458-1463.

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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, Pendred syndrome, SLC26A4",

author = "Elona Cama and Alemanno, {Maria Stella} and Emanuele Bellacchio and Rosamaria Santarelli and Massimo Carella and Leopoldo Zelante and Teresa Palladino and Ingrid Inches and {di Paola}, Francesco and Edoardo Arslan and Salvatore Melchionda",

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AU - Carella, Massimo

AU - Zelante, Leopoldo

AU - Palladino, Teresa

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AB - 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.

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