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Disease name
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Gusher 증후군
Gusher syndrome
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Marker gene
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Gene symbol
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Chromosome location
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Protein name
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POU3F4
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Xq21.1 |
POU domain, class 3, transcription factor 4 |
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Prevalence
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미상 |
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Inheritance
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X 연관 열성 |
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Age of onset
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신생아기, 영아기 |
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ICD 10 code
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H90.8 |
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MIM number
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304400
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Synonym
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X-linked deafness mixed with perilymph gusher |
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X-linked deafness mixed with perilymphatic gusher |
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X-linked deafness, DFN3 |
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X-linked mixed conductive and neurosensory deafness |
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X-linked mixed conductive and neurosensory hearing loss |
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X-linked mixed conductive and sensorineural deafness |
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X-linked mixed conductive and sensorineural hearing loss |
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Summary
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Gusher`s syndrome is marked by progressive isolated deafness, either mixed or sensorineural, along with petrous malformation that suggests a perilymphatic fistula. This syndrome is inherited by X-linked recessive transmission, (i.e. it affects boys only). The causative gene is located on Xq21.1 and encodes a transcription factor, POU3F4. Intragenic mutations and deletions have been identified in the patients. Patient management is multidisciplinary. Surgery is resorted to only when deafness progresses brutally and fails to respond to other forms of treatment.
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