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Article Dans Une Revue Neurology Genetics Année : 2017

Clinical heterogeneity and phenotype/genotype findings in 5 families with &ITGYG1&IT deficiency

Julia R. Dahlqvist
  • Fonction : Auteur
David Gaist
  • Fonction : Auteur
Nathalie Streichenberger
  • Fonction : Auteur
Fabrice Michel
  • Fonction : Auteur
  • PersonId : 758089
  • IdRef : 17879337X
Edoardo Malfatti
  • Fonction : Auteur
Norma Romero
  • Fonction : Auteur
Robert Yves Carlier
  • Fonction : Auteur
Morten Duno
  • Fonction : Auteur
Thomas Krag
  • Fonction : Auteur
John Vissing
  • Fonction : Auteur
Pascal Laforet
  • Fonction : Auteur

Résumé

Objective: To describe the variability of muscle symptoms in patients carrying mutations in the GYG1 gene, encoding glycogenin-1, an enzyme involved in the biosynthesis of glycogen, and to discuss genotype-phenotype relations. Methods: We describe 9 patients from 5 families in whom muscle biopsies showed vacuoles with an abnormal accumulation of glycogen in muscle fibers, partially alpha-amylase resistant suggesting polyglucosan bodies. The patients had either progressive early-onset limb-girdle weakness or late-onset distal or scapuloperoneal muscle affection as shown by muscle imaging. No clear definite cardiac disease was found. Histologic and protein analysis investigations were performed on muscle Results: Genetic analyses by direct or exome sequencing of the GYG1 gene revealed 6 different GYG1 mutations. Four of the mutations were novel. They were compound heterozygous in 3 families and homozygous in 2. Protein analysis revealed either the absence of glycogenin-1 or reduced glycogenin-1 expression with impaired glucosylation. Conclusions: Our report extends the genetic and clinical spectrum of glycogenin-1-related myopathies to include scapuloperoneal and distal affection with glycogen accumulation.
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Dates et versions

hal-04010378 , version 1 (23-03-2018)
hal-04010378 , version 2 (01-03-2023)

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Rabah Ben Yaou, Aurelie Hubert, Isabelle Nelson, Julia R. Dahlqvist, David Gaist, et al.. Clinical heterogeneity and phenotype/genotype findings in 5 families with &ITGYG1&IT deficiency. Neurology Genetics, 2017, 3 (6), pp.e208. ⟨10.1212/NXG.0000000000000208⟩. ⟨hal-04010378v2⟩
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