The spectrum of GNE mutations: Allelic heterogeneity for a common phenotype

Marina Grandis, Rossella Gulli, Denise Cassandrini, Elisabetta Gazzerro, Luana Benedetti, Eleonora Narciso, Lucilla Nobbio, Claudio Bruno, Carlo Minetti, Emilia Bellone, Lizia Reni, Giovanni Luigi Mancardi, Paola Mandich, Angelo Schenone

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Hereditary inclusion body myopathy (IBM2) was mainly reported in Middle Eastern Jewish patients. Distal myopathy with rimmed vacuoles has been described as a worldwide distributed distal myopathy. Both diseases are caused by mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Herein we report two patients: an Egyptian Muslim patient with the "common" Middle Eastern mutation (M712T), rarely described in non-Jewish patients; and an Italian patient carrying a novel GNE mutation (L179F) in the epimerase domain. Our patients share common clinical and histopathological features, with some interesting aspects. The first patient presented a clinical deterioration during her first pregnancy confirming that an increased requirement of sialic acid during pregnancy may trigger a clinical worsening. The second patient showed a slowly progressive deterioration, different from other patients carrying mutations in the epimerase domain, who had a severe and rapid progression.

Original languageEnglish
Pages (from-to)377-380
Number of pages4
JournalNeurological Sciences
Volume31
Issue number3
DOIs
Publication statusPublished - Jun 2010

Fingerprint

Phenotype
Mutation
Racemases and Epimerases
Distal Myopathies
Pregnancy
Islam
N-Acetylneuraminic Acid
Genes

Keywords

  • Distal myopathy with rimmed vacuoles (DMRV)
  • Hereditary inclusion body myopathy (IBM2)
  • Middle Eastern Jewish founder mutation
  • Nonaka myopathy
  • Rimmed vacuoles
  • UDP-N-Acetylglucosamine 2-epimerase/N- acetylmannosamine kinase (GNE)

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology
  • Medicine(all)

Cite this

Grandis, M., Gulli, R., Cassandrini, D., Gazzerro, E., Benedetti, L., Narciso, E., ... Schenone, A. (2010). The spectrum of GNE mutations: Allelic heterogeneity for a common phenotype. Neurological Sciences, 31(3), 377-380. https://doi.org/10.1007/s10072-010-0248-y

The spectrum of GNE mutations : Allelic heterogeneity for a common phenotype. / Grandis, Marina; Gulli, Rossella; Cassandrini, Denise; Gazzerro, Elisabetta; Benedetti, Luana; Narciso, Eleonora; Nobbio, Lucilla; Bruno, Claudio; Minetti, Carlo; Bellone, Emilia; Reni, Lizia; Mancardi, Giovanni Luigi; Mandich, Paola; Schenone, Angelo.

In: Neurological Sciences, Vol. 31, No. 3, 06.2010, p. 377-380.

Research output: Contribution to journalArticle

Grandis, M, Gulli, R, Cassandrini, D, Gazzerro, E, Benedetti, L, Narciso, E, Nobbio, L, Bruno, C, Minetti, C, Bellone, E, Reni, L, Mancardi, GL, Mandich, P & Schenone, A 2010, 'The spectrum of GNE mutations: Allelic heterogeneity for a common phenotype', Neurological Sciences, vol. 31, no. 3, pp. 377-380. https://doi.org/10.1007/s10072-010-0248-y
Grandis, Marina ; Gulli, Rossella ; Cassandrini, Denise ; Gazzerro, Elisabetta ; Benedetti, Luana ; Narciso, Eleonora ; Nobbio, Lucilla ; Bruno, Claudio ; Minetti, Carlo ; Bellone, Emilia ; Reni, Lizia ; Mancardi, Giovanni Luigi ; Mandich, Paola ; Schenone, Angelo. / The spectrum of GNE mutations : Allelic heterogeneity for a common phenotype. In: Neurological Sciences. 2010 ; Vol. 31, No. 3. pp. 377-380.
@article{a59677a9edba4ba2a9f368c3b850475e,
title = "The spectrum of GNE mutations: Allelic heterogeneity for a common phenotype",
abstract = "Hereditary inclusion body myopathy (IBM2) was mainly reported in Middle Eastern Jewish patients. Distal myopathy with rimmed vacuoles has been described as a worldwide distributed distal myopathy. Both diseases are caused by mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Herein we report two patients: an Egyptian Muslim patient with the {"}common{"} Middle Eastern mutation (M712T), rarely described in non-Jewish patients; and an Italian patient carrying a novel GNE mutation (L179F) in the epimerase domain. Our patients share common clinical and histopathological features, with some interesting aspects. The first patient presented a clinical deterioration during her first pregnancy confirming that an increased requirement of sialic acid during pregnancy may trigger a clinical worsening. The second patient showed a slowly progressive deterioration, different from other patients carrying mutations in the epimerase domain, who had a severe and rapid progression.",
keywords = "Distal myopathy with rimmed vacuoles (DMRV), Hereditary inclusion body myopathy (IBM2), Middle Eastern Jewish founder mutation, Nonaka myopathy, Rimmed vacuoles, UDP-N-Acetylglucosamine 2-epimerase/N- acetylmannosamine kinase (GNE)",
author = "Marina Grandis and Rossella Gulli and Denise Cassandrini and Elisabetta Gazzerro and Luana Benedetti and Eleonora Narciso and Lucilla Nobbio and Claudio Bruno and Carlo Minetti and Emilia Bellone and Lizia Reni and Mancardi, {Giovanni Luigi} and Paola Mandich and Angelo Schenone",
year = "2010",
month = "6",
doi = "10.1007/s10072-010-0248-y",
language = "English",
volume = "31",
pages = "377--380",
journal = "Neurological Sciences",
issn = "1590-1874",
publisher = "Springer-Verlag Italia s.r.l.",
number = "3",

}

TY - JOUR

T1 - The spectrum of GNE mutations

T2 - Allelic heterogeneity for a common phenotype

AU - Grandis, Marina

AU - Gulli, Rossella

AU - Cassandrini, Denise

AU - Gazzerro, Elisabetta

AU - Benedetti, Luana

AU - Narciso, Eleonora

AU - Nobbio, Lucilla

AU - Bruno, Claudio

AU - Minetti, Carlo

AU - Bellone, Emilia

AU - Reni, Lizia

AU - Mancardi, Giovanni Luigi

AU - Mandich, Paola

AU - Schenone, Angelo

PY - 2010/6

Y1 - 2010/6

N2 - Hereditary inclusion body myopathy (IBM2) was mainly reported in Middle Eastern Jewish patients. Distal myopathy with rimmed vacuoles has been described as a worldwide distributed distal myopathy. Both diseases are caused by mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Herein we report two patients: an Egyptian Muslim patient with the "common" Middle Eastern mutation (M712T), rarely described in non-Jewish patients; and an Italian patient carrying a novel GNE mutation (L179F) in the epimerase domain. Our patients share common clinical and histopathological features, with some interesting aspects. The first patient presented a clinical deterioration during her first pregnancy confirming that an increased requirement of sialic acid during pregnancy may trigger a clinical worsening. The second patient showed a slowly progressive deterioration, different from other patients carrying mutations in the epimerase domain, who had a severe and rapid progression.

AB - Hereditary inclusion body myopathy (IBM2) was mainly reported in Middle Eastern Jewish patients. Distal myopathy with rimmed vacuoles has been described as a worldwide distributed distal myopathy. Both diseases are caused by mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Herein we report two patients: an Egyptian Muslim patient with the "common" Middle Eastern mutation (M712T), rarely described in non-Jewish patients; and an Italian patient carrying a novel GNE mutation (L179F) in the epimerase domain. Our patients share common clinical and histopathological features, with some interesting aspects. The first patient presented a clinical deterioration during her first pregnancy confirming that an increased requirement of sialic acid during pregnancy may trigger a clinical worsening. The second patient showed a slowly progressive deterioration, different from other patients carrying mutations in the epimerase domain, who had a severe and rapid progression.

KW - Distal myopathy with rimmed vacuoles (DMRV)

KW - Hereditary inclusion body myopathy (IBM2)

KW - Middle Eastern Jewish founder mutation

KW - Nonaka myopathy

KW - Rimmed vacuoles

KW - UDP-N-Acetylglucosamine 2-epimerase/N- acetylmannosamine kinase (GNE)

UR - http://www.scopus.com/inward/record.url?scp=77955912122&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77955912122&partnerID=8YFLogxK

U2 - 10.1007/s10072-010-0248-y

DO - 10.1007/s10072-010-0248-y

M3 - Article

C2 - 20300792

AN - SCOPUS:77955912122

VL - 31

SP - 377

EP - 380

JO - Neurological Sciences

JF - Neurological Sciences

SN - 1590-1874

IS - 3

ER -