Ontology highlight
ABSTRACT:
SUBMITTER: Kim S
PROVIDER: S-EPMC2702731 | biostudies-literature | 2009 Jun
REPOSITORIES: biostudies-literature
Clinical and experimental otorhinolaryngology 20090629 2
Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791). H723R (2168A>G) is the most commonly reported SLC26A4 mutations in Korean and Japanese and known as founder mutation. We recently experienced one patient with enlarged vestibular aqueduct syndrome. The genetic study showed H723R homozygous in the proband and H723R heterozygous mutation in his family me ...[more]