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What is A 6-month-old child presented with complaint of multiple episodes of focal seizures along with developmental delay, learning difficulties and ADHD. On examination, Macrocephaly Hemianopsia Ceain facial lesion Glaucoma with buphthalmos Conjunctival and episcleral hemangiomas Which of the following genes is most likely mutated: - and explain in detail?
This is a case of Sturge weber syndrome. 1stimage shows the po-wine stain. 2ndimage shows the Heterochromia iridis. Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the leptomeninges (leptomeningeal angiomas ) and the skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve. Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. This gene provides instructions for making a protein called guanine nucleotide-binding protein G(q) subunit alpha (Gaq)