A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome.

[pendred syndrome]

Recessive mutations of the SLC 26 A 4 (PDS ) gene on chromosome 7 q 31 can cause sensorineural deafness with goiter (Pendred syndrome , OMIM 274600 ) or NSRD with goiter (at the DFNB 4 locus , OMIM 600791 ). H 723 R (2168 A >G ) is the most commonly reported SLC 26 A 4 mutations in Korean and Japanese and known as founder mutation . We recently experienced one patient with enlarged vestibular aqueduct syndrome . The genetic study showed H 723 R homozygous in the proband and H 723 R heterozygous mutation in his family members . The identification of a disease-causing mutation can be used to establish a genotypic diagnosis and provide important information to both families and their physicians .

Diseases
Validation

Diseases presenting "sensorineural deafness" symptom

coats disease

cohen syndrome

kallmann syndrome

pendred syndrome

This symptom has already been validated