Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2-gangliosidoses.
Fatemeh Mansouri-MovahedFatemeh AkhoundiParvaneh NikpourMasoud GarshasbiModjtaba Emadi-BaygiPublished in: Clinical case reports (2020)
Sandhoff disease is one of the GM2-gangliosidoses which is caused by a mutation in the HEXB preventing the breakdown of GM2-ganglioside. We report a novel HEXB variant in a family with a history of a dead girl with Sandhoff disease which was not found in controls.
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