Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2-gangliosidoses

Fatemeh Mansouri-Movahed; Fatemeh Akhoundi; Parvaneh Nikpour; Masoud Garshasbi; Modjtaba Emadi-Baygi

doi:10.1002/ccr3.3103

Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2-gangliosidoses

Clin Case Rep. 2020 Aug 11;8(12):2583-2591. doi: 10.1002/ccr3.3103. eCollection 2020 Dec.

Authors

Fatemeh Mansouri-Movahed¹, Fatemeh Akhoundi¹, Parvaneh Nikpour^{2

3}, Masoud Garshasbi⁴, Modjtaba Emadi-Baygi^{1

5}

Affiliations

¹ Department of Genetics Faculty of Basic Sciences Shahrekord University Shahrekord Iran.
² Department of Genetics and Molecular Biology Faculty of Medicine Isfahan University of Medical Sciences Isfahan Iran.
³ Child Growth and Development Research Center Research Institute for Primordial Prevention of Non-Communicable Disease Isfahan University of Medical Sciences Isfahan Iran.
⁴ Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University Tehran Iran.
⁵ Research Institute of Biotechnology Shahrekord University Shahrekord Iran.

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.

Keywords: GM2‐gangliosidoses; HEXA; HEXB; sandhoff; β‐hexosaminidase.

Publication types

Case Reports