Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension?
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چکیده
منابع مشابه
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome
OBJECTIVES The aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about the gene mutations can be beneficial in molecular detection and management of deaf patients. METHODS We investigated the genetic etiology in a large consanguineous family with 9 deaf patients from Fars province of I...
متن کاملHypermethylation of the Pendred syndrome gene SLC26A4 is an early event in thyroid tumorigenesis.
Expression of the recently cloned Pendred syndrome gene SLC26A4 or PDS has been found to be decreased or even absent in various thyroid tumors. To explore the underlying mechanism, we conducted DNA sequencing and methylation-specific PCR studies in 64 primary thyroid tumors and 6 thyroid cell lines. We found aberrant hypermethylation of the SLC26A4 gene in 44% of histologically benign adenomas,...
متن کاملExome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family
BACKGROUND Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism. METHODS AND RESULTS Whole exome sequencing was performed on 2 sisters with PDS and the...
متن کاملPendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.
Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct (EVA) to a typical coclear dysplasia. Mutations in the gene that encodes pendrin (SLC26A4), a chloride/iodide transporter, have been shown to ...
متن کاملIdentification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.
Recently the gene responsible for Pendred syndrome (PDS) was isolated and several mutations in the PDS gene have been identified in Pendred patients. Here we report the occurrence of two different PDS mutations in an extended inbred Turkish family. The majority of patients in this family are homozygous for a splice site mutation (1143-2A-->G) affecting the 3' splice site consensus sequence of i...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2009
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmg.2008.063610