Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses. Issue 12 (11th August 2020)

• Record Type: Journal Article
• Authors: Mansouri‐Movahed, Fatemeh; Akhoundi, Fatemeh; Nikpour, Parvaneh; Garshasbi, Masoud; Emadi‐Baygi, Modjtaba
• Is Part Of: Clinical case reports. Volume 8:Issue 12(2020)
• Page Start: 2583
• Page End: 2591
• Publication Date: 2020-08-11
• Subjects: GM2‐gangliosidoses -- HEXA -- HEXB -- sandhoff -- β‐hexosaminidase; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.3103
• Languages: English
• ISSNs: 2050-0904

Abstract

Abstract: 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. Abstract : 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.