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.
