[Current status and perspectives of the research in Pendred syndrome].

[pendred syndrome]

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss , goiter , and a partial defect in iodide organification , and is the most common syndromic hearing loss . Hearing loss is congenital in most cases and is accompanied by an enlarged vestibular aqueduct and a Mondini cochlea . Pendred syndrome and autosomal recessive deafness -4 (DFNB 4 ) with enlarged vestibular aqueduct comprise a phenotypic spectrum caused by mutations in SLC 26 A 4 . Recently , mutations in FOXI 1 and KCNJ 10 have also been identified in DFNB 4 . Molecular mechanism of hearing loss and goiter remains to be elucidated , and therapies which can reverse or prevent the progression of the symptoms are not available . Here , we describe advances in the basic , clinical , and translational studies on Pendred syndrome .

Diseases
Validation

Diseases presenting "mutations in foxi1" symptom

pendred syndrome

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