Instruction:

Using the provided context, take concise and clear notes that directly relate to the given question. Your notes should be detailed and focused, capturing all relevant information from the context that addresses the question. Keep the notes thorough yet succinct—not overly long but comprehensive in covering key points.

# Example:

Given Context:

VHL Gene Function:
- 	Provides instructions for making the VHL protein.
- 	Part of the VCB-CUL2 complex that degrades unneeded proteins like HIF.
- 	Acts as a tumor suppressor to prevent uncontrolled cell growth.
Associated Conditions:
- 	Von Hippel-Lindau (VHL) Syndrome:
- 	Caused by mutations in the VHL gene.
- 	Characterized by tumors and cysts in various parts of the body.
- 	Common features include hemangioblastomas in the brain, spinal cord, and retina.
- 	Retinal hemangioblastomas can lead to vision problems. 
Hemangioblastomas:
- 	Tumors made of newly formed blood vessels.
- 	Can occur sporadically or as part of VHL syndrome.

Given Question:

A 16-year-old boy with a seizure disorder and cognitive delay is brought to the physician because of progressively worsening right lower extremity weakness for the past 6 months. He does not make eye contact and sits very close to his mother. Physical examination shows a grade 3/6 holosystolic murmur at the cardiac apex. Neurological examination shows decreased strength in the right lower leg with normal strength in the other extremities. Fundoscopic examination shows several multinodular, calcified lesions in the retina bilaterally. A photograph of his skin findings is shown. This patient’s condition is most likely due to a mutation in which of the following?

Notes:

Patient Presentation:
- 	16-year-old male with seizures and cognitive delay.
- 	Progressive weakness in right lower extremity.
- 	Holosystolic murmur at cardiac apex.
- 	Retinal lesions: multinodular, calcified.
- 	Skin findings (not specified but implied).
- 	Relevant Context from VHL Gene:
- 	VHL gene mutations lead to von Hippel-Lindau syndrome.
- 	VHL syndrome features retinal hemangioblastomas (tumors of new blood vessels).
- 	Hemangioblastomas can occur in the brain, spinal cord, and retina.
Analysis:
- 	Retinal lesions could be retinal hemangioblastomas associated with VHL mutations.
- 	Neurological symptoms may relate to CNS hemangioblastomas.
- 	However, seizures and cognitive delay are not typical of VHL syndrome.
- 	Holosystolic murmur suggests possible cardiac involvement not commonly seen in VHL.
Possible Conclusion:
- 	While some features align with VHL mutations (retinal lesions), other symptoms suggest a different condition.
- 	Tuberous sclerosis (mutations in TSC1/TSC2 genes) presents with:
- 	Seizures and cognitive delay.
- 	Cardiac rhabdomyomas causing murmurs.
- 	Retinal hamartomas (calcified lesions).
- 	Skin findings like ash-leaf spots or shagreen patches.


# Given Context:
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# Given Question:
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# Notes: