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Mosaicism in Neurogenetics
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Question 1
A child presents with a unilateral port-wine stain in the V1 dermatome, ipsilateral leptomeningeal angioma on MRI, and seizures. Blood-based exome sequencing is negative. The most likely genetic etiology is:
A
An inherited autosomal dominant variant in a vascular gene with reduced penetrance
B
A somatic mosaic GNAQ p.R183Q variant confined to affected cephalic tissues
C
A germline BRAF variant causing a RASopathy with vascular involvement
D
A chromosomal aneuploidy detectable by standard karyotype analysis
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