Long-term audiological feature in Pendred syndrome caused by PDS mutation.
Pendred syndrome is an autosomal recessive disorder characterized by profound deafness in childhood and goiter. We report a case of Pendred syndrome in a 27-year-old woman who had a diffuse goiter and progressive sensorineural hearing loss with fluctuation and a missense mutation (His723Arg) in the PDS gene identified in a homozygous state. Audiological findings were observed clinically over a 20-year period. Progressive hearing loss with fluctuation occurred before age 12 years. An enlarged vestibular aqueduct with enlargement of the endolymphatic duct and sac was confirmed with 3-dimensional magnetic resonance imaging hydrography.
Iwasaki
S
S
Department of Otolaryngology, Hamamatsu University School of Medicine, 3600 Handa-cho, Hamamatsu, 431-3192 Japan. iwasaki@hama-med.ac.jp
Usami
S
S
Abe
S
S
Isoda
H
H
Watanabe
T
T
Hoshino
T
T
D000328:Adult; D001120:Arginine / Q000235:genetics; D001692:Biological Transport / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7; D004252:DNA Mutational Analysis; D018450:Disease Progression; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D006042:Goiter / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006639:Histidine / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D026901:Membrane Transport Proteins; D020125:Mutation, Missense; D000076988:Sulfate Transporters; D013577:Syndrome; D013997:Time Factors; D014723:Vestibular Aqueduct / Q000473:pathology
D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D006639:Histidine; D001120:Arginine