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

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Oldfors Hedberg, Carola,1969Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine (author)

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

Article/chapterEnglish2019

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Elsevier BV,2019

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LIBRIS-ID:oai:gup.ub.gu.se/289899
https://gup.ub.gu.se/publication/289899URI
https://doi.org/10.1016/j.nmd.2019.10.002DOI

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Language:English

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Subject category:art swepub-publicationtype

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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.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Klinisk laboratoriemedicin hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Clinical Laboratory Medicine hsv//eng
GYG1
Polyglucosan
GSD XV
Myopathy
MRI
Glycogenin-1 deficiency
polyglucosan body myopathy
cardiomyopathy
mutation
disease
field
mri
Neurosciences & Neurology

Added entries (persons, corporate bodies, meetings, titles ...)

De Ridder, W. (author)
Kalev, O. (author)
Bock, K. (author)
Visuttijai, K. (author)
Caravias, G. (author)
Topf, A. (author)
Straub, V. (author)
Baets, J. (author)
Oldfors, Anders,1951Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine(Swepub:gu)xoland (author)
Göteborgs universitetInstitutionen för biomedicin, avdelningen för laboratoriemedicin (creator_code:org_t)

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In:Neuromuscular Disorders: Elsevier BV29:12, s. 951-9600960-8966

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