当前位置： SCI文献检索 > INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY期刊下所有文献 > Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.

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.

journal_name

Int J Pediatr Otorhinolaryngol

journal_title

International journal of pediatric otorhinolaryngology

authors

Cama E,Alemanno MS,Bellacchio E,Santarelli R,Carella M,Zelante L,Palladino T,Inches I,di Paola F,Arslan E,Melchionda S

doi

10.1016/j.ijporl.2009.06.003

subject

Has Abstract

pub_date

2009-10-01 00:00:00

pages

1458-63

issue

10

eissn

0165-5876

issn

1872-8464

pii

S0165-5876(09)00336-X

journal_volume

73

pub_type

杂志文章

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