Optic Pathway tumor in a novel KIAA1109 variant

Krunal Shah; Niyati Sanghavi; Aarthi Viswanathan; Arun Kumar; Nuthan Kumar; Prakruthi Kaushik; BS Aruna Kumari; Appaji L

doi:10.22541/au.164873413.30693698/v1

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Optic Pathway tumor in a novel KIAA1109 variant

Krunal Shah,
Niyati Sanghavi,
Aarthi Viswanathan,
Arun Kumar,
Nuthan Kumar,
Prakruthi Kaushik,
BS Aruna Kumari,
Appaji L

Abstract

Alkuraya-Kucinskas syndrome is a neurodevelopmental disorder due to mutation in KIAA1109 gene. We report a case of optic pathway tumor in a child with novel variant of KIAA1109. A plausible mechanism of gliomagenesis is considered based on influence of KIAA1109 on regulation of phosphatidyl inositol phosphorylation.