A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy

Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations. In this study, we report a no...

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Autores principales: Behnam, Mahdiyeh, Jin-Hong, Shin, Kim, Dae-Seong, Basiri, Keivan, Nilipour, Yalda, Sedghi, Maryam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235102/
https://www.ncbi.nlm.nih.gov/pubmed/25422667
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author Behnam, Mahdiyeh
Jin-Hong, Shin
Kim, Dae-Seong
Basiri, Keivan
Nilipour, Yalda
Sedghi, Maryam
author_facet Behnam, Mahdiyeh
Jin-Hong, Shin
Kim, Dae-Seong
Basiri, Keivan
Nilipour, Yalda
Sedghi, Maryam
author_sort Behnam, Mahdiyeh
collection PubMed
description Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations. In this study, we report a novel GNE homozygous point mutation c.1834T>G that results in amino acid substitution of cysteine 612 to glutamine in an Iranian patient. This mutation is located in exon 10 within the kinase domain of the protein.
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spelling pubmed-42351022014-11-24 A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy Behnam, Mahdiyeh Jin-Hong, Shin Kim, Dae-Seong Basiri, Keivan Nilipour, Yalda Sedghi, Maryam J Res Med Sci Case Report Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations. In this study, we report a novel GNE homozygous point mutation c.1834T>G that results in amino acid substitution of cysteine 612 to glutamine in an Iranian patient. This mutation is located in exon 10 within the kinase domain of the protein. Medknow Publications & Media Pvt Ltd 2014-08 /pmc/articles/PMC4235102/ /pubmed/25422667 Text en Copyright: © Journal of Research in Medical Sciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Behnam, Mahdiyeh
Jin-Hong, Shin
Kim, Dae-Seong
Basiri, Keivan
Nilipour, Yalda
Sedghi, Maryam
A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy
title A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy
title_full A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy
title_fullStr A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy
title_full_unstemmed A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy
title_short A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy
title_sort novel missense mutation in the gne gene in an iranian patient with hereditary inclusion body myopathy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235102/
https://www.ncbi.nlm.nih.gov/pubmed/25422667
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