A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome.

[pendred syndrome]

Pendred syndrome (PS ) is an autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss , goiter , and incomplete iodide organification . Patients with PS also have structural anomalies of the inner ear such as enlarged vestibular aqueducts (EVA ) and Mondini 's malformation . The goiter , which is a major clinical manifestation of PS , usually develops around adolescence . PS is caused by biallelic mutations of the SLC 26 A 4 gene , while nonsyndromic bilateral EVA is associated with zero or one SLC 26 A 4 mutant allele . We report here a Korean family including a young female with PS who had goiter and progressive , fluctuating sensorineural hearing loss that could be partially recovered by oral steroid treatment . Genetic investigation revealed compound heterozygous mutations for p .R 677 AfsX 11 , a novel frameshift mutation , and p .H 723 R in the SLC 26 A 4 gene . Our findings provide detailed information regarding the distribution of mutant alleles for PS and may serve as a foundation for studies to comprehend the genetic portion of syndromic hearing loss .

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