[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 "hearing loss" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

benign recurrent intrahepatic cholestasis

canavan disease

cohen syndrome

congenital toxoplasmosis

dentinogenesis imperfecta

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

neonatal adrenoleukodystrophy

pendred syndrome

von hippel-lindau disease

wolf-hirschhorn syndrome

This symptom has already been validated