Temporal bone histopathology in dominantly inherited audiovestibular syndrome.
OBJECTIVE
To describe the clinical and pathologic features of a new dominantly inherited audiovestibular syndrome.


METHODS
History, examination, and audiometric testing in the proband, brother, and son; quantitative rotational testing in the proband and son; histopathology of the cochlea and vestibular labyrinth in the proband; sequencing candidate genes COCH and MYO7A in the brother and son.


RESULTS
Affected family members developed slowly progressive hearing loss beginning in their late 30s and progressive imbalance in their early 70s. Three of four affected had brief (minutes) episodes of vertigo typically occurring a few times per year. Auditory and vestibular function testing documented a slowly progressive loss of auditory and vestibular function. Postmortem examination showed a loss of hair cells in the cochlea and vestibular receptor organs. There were no cellular infiltrates or acidophilic deposits. No mutations were found in the COCH or MYO7A genes.


CONCLUSIONS
This dominantly inherited audiovestibular syndrome results in a selective loss of hair cells in the auditory and vestibular end organs. Finding the causative gene could have important implications for understanding the pathophysiology of presbycusis and dysequilibrium of aging.
Ishiyama
A
A
Division of Head and Neck Surgery, UCLA School of Medicine, Los Angeles, CA 90095-1769, USA.
Ishiyama
G
G
Lopez
I
I
Jen
J
J
Kim
G
G
Baloh
R W
RW
D000328:Adult; D017668:Age of Onset; D000368:Aged; D001301:Audiometry, Pure-Tone; D016923:Cell Death; D015834:Cochlear Diseases / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D018450:Disease Progression; D004398:Dyneins / Q000235:genetics; D016057:Evoked Potentials, Auditory, Brain Stem; D016326:Extracellular Matrix Proteins; D020233:Gait Disorders, Neurologic / Q000235:genetics; D005799:Genes, Dominant; D006198:Hair Cells, Auditory / Q000473:pathology*; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics; D010375:Pedigree; D011506:Proteins / Q000235:genetics; D013701:Temporal Bone / Q000473:pathology*; D014717:Vertigo / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology
C110668:COCH protein, human; D016326:Extracellular Matrix Proteins; C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D011506:Proteins; D009218:Myosins; D004398:Dyneins