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 | |
| Publication status | Published - Oct 2009 |
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Keywords
- Autosomal recessive hearing loss
- Enlarged vestibular aqueduct
- Novel mutation
- Pendred syndrome
- SLC26A4
ASJC Scopus subject areas
- Otorhinolaryngology
- Pediatrics, Perinatology, and Child Health
Cite this
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
}
TY - JOUR
T1 - Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss
AU - Cama, Elona
AU - Alemanno, Maria Stella
AU - Bellacchio, Emanuele
AU - Santarelli, Rosamaria
AU - Carella, Massimo
AU - Zelante, Leopoldo
AU - Palladino, Teresa
AU - Inches, Ingrid
AU - di Paola, Francesco
AU - Arslan, Edoardo
AU - Melchionda, Salvatore
PY - 2009/10
Y1 - 2009/10
N2 - 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.
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.
KW - Autosomal recessive hearing loss
KW - Enlarged vestibular aqueduct
KW - Novel mutation
KW - Pendred syndrome
KW - SLC26A4
UR - http://www.scopus.com/inward/record.url?scp=69249229710&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=69249229710&partnerID=8YFLogxK
U2 - 10.1016/j.ijporl.2009.06.003
DO - 10.1016/j.ijporl.2009.06.003
M3 - Article
C2 - 19615760
AN - SCOPUS:69249229710
VL - 73
SP - 1458
EP - 1463
JO - International Journal of Pediatric Otorhinolaryngology
JF - International Journal of Pediatric Otorhinolaryngology
SN - 0165-5876
IS - 10
ER -