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Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency

Artikel i vetenskaplig tidskrift
Författare Carola Oldfors Hedberg
W. De Ridder
O. Kalev
K. Bock
K. Visuttijai
G. Caravias
A. Topf
V. Straub
J. Baets
Anders Oldfors
Publicerad i Neuromuscular Disorders
Volym 29
Nummer/häfte 12
Sidor 951-960
ISSN 0960-8966
Publiceringsår 2019
Publicerad vid Institutionen för biomedicin, avdelningen för laboratoriemedicin
Sidor 951-960
Språk en
Länkar dx.doi.org/10.1016/j.nmd.2019.10.00...
Ämnesord GYG1, Polyglucosan, GSD XV, Myopathy, MRI, Glycogenin-1 deficiency, polyglucosan body myopathy, cardiomyopathy, mutation, disease, field, mri, Neurosciences & Neurology
Ämneskategorier Klinisk laboratoriemedicin

Sammanfattning

Glycogen storage disease XV is caused by variants in the glycogenin-1 gene, GYG1, and presents as a predominant skeletal myopathy or cardiomyopathy. We describe two patients with late-onset myopathy anti biallelic GYG1 variants. In patient 1, the novel c.144-2A>G splice acceptor variant and the novel frameshift variant c.631delG (p.Va1211Cysfs(star)30) were identified, and in patient 2, the previously described c.304G>C (p.Asp102His) and c.487deLG (p.Asp163Thrfs(star)5) variants were found. Protein analysis showed total absence of glycogenin-1 expression in patient 1, whereas in patient 2 there was reduced expression of glycogenin-1, with the residual protein being non-functional. Both patients showed glycogen and polyglucosan storage in their muscle fibers, as revealed by PAS staining and electron microscopy. Age at onset of the myopathy phenotype was 53 years and 70 years respectively, with the selective pattern of muscle involvement on MRI corroborating the pattern of weakness. Cardiac evaluation of patient 1 and 2 did not show any specific abnormalities linked to the glycogenin-1 deficiency. In patient 2, who was shown to express the p.Asp102His mutated glycogenin-1, cardiac evaluation was still normal at age 77 years. This contrasts with the association of the p.Asp102His variant in homozygosity with a severe cardiomyopathy in several cases with an onset age between 30 and 50 years. This finding might indicate that the level of p.Asp102His mutated glycogenin-1 determines if a patient will develop a cardiomyopathy. (C) 2019 Elsevier B.V. All rights reserved.

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