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

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.

Detalles Bibliográficos
Autores principales: Mansouri‐Movahed, Fatemeh, Akhoundi, Fatemeh, Nikpour, Parvaneh, Garshasbi, Masoud, Emadi‐Baygi, Modjtaba
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752470/
https://www.ncbi.nlm.nih.gov/pubmed/33363784
http://dx.doi.org/10.1002/ccr3.3103
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author Mansouri‐Movahed, Fatemeh
Akhoundi, Fatemeh
Nikpour, Parvaneh
Garshasbi, Masoud
Emadi‐Baygi, Modjtaba
author_facet Mansouri‐Movahed, Fatemeh
Akhoundi, Fatemeh
Nikpour, Parvaneh
Garshasbi, Masoud
Emadi‐Baygi, Modjtaba
author_sort Mansouri‐Movahed, Fatemeh
collection PubMed
description 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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spelling pubmed-77524702020-12-23 Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses Mansouri‐Movahed, Fatemeh Akhoundi, Fatemeh Nikpour, Parvaneh Garshasbi, Masoud Emadi‐Baygi, Modjtaba Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2020-08-11 /pmc/articles/PMC7752470/ /pubmed/33363784 http://dx.doi.org/10.1002/ccr3.3103 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Mansouri‐Movahed, Fatemeh
Akhoundi, Fatemeh
Nikpour, Parvaneh
Garshasbi, Masoud
Emadi‐Baygi, Modjtaba
Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses
title Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses
title_full Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses
title_fullStr Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses
title_full_unstemmed Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses
title_short Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses
title_sort identification of a novel hexb mutation in an iranian family with suspected patient to gm2‐gangliosidoses
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752470/
https://www.ncbi.nlm.nih.gov/pubmed/33363784
http://dx.doi.org/10.1002/ccr3.3103
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