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GENATLAS PHENOTYPE
last update : 26-08-2009
Symbol PDS
Location 7q22.3
Name Pendred syndrome
Other name(s) goiter deafness syndrome
Corresponding gene SLC26A4
related resource Hereditary Hearing Loss Homepage
Other symbol(s) DFNG
Main clinical features
  • neurosensory deafness with temporal bone abnormalities that range from isolated enlarged vestibular acqueduct (EVA, OMIM: 603545) to developmental abnormalities of cochlea (Mondini dysplasia) and goiter, with iodine organification defect in the thyroid gland, allelic to DFNB4
    • Genetic determination autosomal recessive
    Function/system disorder ear
    endocrinology
    Type disease
    Gene product
    Name pendrin (PDS)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   unknown a single allele mutant in isolated EVA, two in Pendred syndrome
    Remark(s) loss of pendrin results in an acidification of endolymph and in a loss of the endocochlear potential via the loss of the K+ channel KCNJ10 (PMID: 18310264))