High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein
نویسندگان
چکیده
منابع مشابه
Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.
OBJECTIVES/HYPOTHESIS Enlarged vestibular aqueduct (EVA) and hearing loss are known to be caused by SLC26A4 mutations, but large phenotypic variability exists among patients with biallelic SLC26A4 mutations. Intrafamilial phenotypic variability was analyzed in multiplex EVA families carrying biallelic SLC26A4 mutations to identify the contribution of SLC26A4 mutations and other genetic or envir...
متن کاملFunctional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.
BACKGROUND Malfunction of the SLC26A4 protein leads to prelingual deafness often associated with mild thyroid dysfunction and goiter. It is assumed that SLC26A4 acts as a chloride/anion exchanger responsible for the iodide organification in the thyroid gland, and conditioning of the endolymphatic fluid in the inner ear. METHODS Chloride uptake studies were made using HEK293-Phoenix cells expr...
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ژورنال
عنوان ژورنال: European Journal of Endocrinology
سال: 2007
ISSN: 0804-4643,1479-683X
DOI: 10.1530/eje-07-0263