Neurodegenerative Diseases USMLE Step 1 Practice Question
A 19-year-old woman presents with progressive bilateral hearing loss and tinnitus over 6 months. Vital signs: BP 118/76, HR 82, RR 16, Temp 37°C, SpO2 98%. MRI reveals bilateral cerebellopontine angle masses with T2 hyperintensity. Audiometry confirms sensorineural hearing loss. She denies headaches, vision changes, or family history of malignancy. Genetic testing shows a pathogenic variant in a tumor suppressor gene. Which gene is most likely mutated?
Answer choices
- AAPC
- BMerlinCorrect answer
- CVHL
- DPTEN
- ENeurofibromin
- FBRCA1
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