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 "while nonsyndromic bilateral eva is associated with zero or one slc26a4 mutant allele" symptom

pendred syndrome

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