Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene☆
Identifieur interne : 000122 ( Main/Exploration ); précédent : 000121; suivant : 000123Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene☆
Auteurs : Carla Martins [Canada] ; Catherine Brunel-Guitton [Canada] ; Anne Lortie [Canada] ; France Gauvin [Canada] ; Carlos R. Morales [Canada] ; Grant A. Mitchell [Canada] ; Alexey V. Pshezhetsky [Canada]Source :
- Molecular Genetics and Metabolism Reports [ 2214-4269 ] ; 2017.
Abstract
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the
Url:
DOI: 10.1016/j.ymgmr.2017.01.017
PubMed: 28417072
PubMed Central: 5388932
Affiliations:
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Le document en format XML
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gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the <italic>GM2A</italic>
gene<sup><xref ref-type="fn" rid="d31e166">☆</xref>
</sup>
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<author><name sortKey="Brunel Guitton, Catherine" sort="Brunel Guitton, Catherine" uniqKey="Brunel Guitton C" first="Catherine" last="Brunel-Guitton">Catherine Brunel-Guitton</name>
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<author><name sortKey="Pshezhetsky, Alexey V" sort="Pshezhetsky, Alexey V" uniqKey="Pshezhetsky A" first="Alexey V." last="Pshezhetsky">Alexey V. Pshezhetsky</name>
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<front><div type="abstract" xml:lang="en"><p>G<sub>M2</sub>
-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the <italic>GM2A</italic>
gene that encodes G<sub>M2</sub>
ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of G<sub>M2</sub>
ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal catabolism of G<sub>M2</sub>
ganglioside, leading to its storage in cells and tissues. We describe a 9-year-old child with an unusual juvenile clinical onset of G<sub>M2</sub>
-gangliosidosis AB. At the age of 3 years he presented with global developmental delay, progressive epilepsy, intellectual disability, axial hypertonia, spasticity, seizures and ataxia, but without the macular cherry-red spots typical for G<sub>M2</sub>
gangliosidosis. Brain MRI detected a rapid onset of diffuse atrophy, whereas whole exome sequencing showed that the patient is a compound heterozygote for two mutations in <italic>GM2A</italic>
: a novel nonsense mutation, c.259G > T (p.E87X) and a missense mutation c.164C > T (p.P55L) that was recently identified in homozygosity in patients of a Saudi family with a progressive chorea-dementia syndrome. Western blot analysis showed an absence of GM2AP in cultured fibroblasts from the patient, suggesting that both mutations interfere with the synthesis and/or folding of the protein. Finally, impaired catabolism of G<sub>M2</sub>
ganglioside in the patient's fibroblasts was demonstrated by metabolic labeling with fluorescently labeled G<sub>M1</sub>
ganglioside and by immunohistochemistry with anti-G<sub>M2</sub>
and anti-G<sub>M3</sub>
antibodies. Our observation expands the molecular and clinical spectrum of molecular defects linked to G<sub>M2</sub>
-gangliosidosis and suggests novel diagnostic approach by whole exome sequencing and perhaps ganglioside analysis in cultured patient's cells.</p>
</div>
</front>
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</settlement>
<orgName><li>Université McGill</li>
</orgName>
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<tree><country name="Canada"><noRegion><name sortKey="Martins, Carla" sort="Martins, Carla" uniqKey="Martins C" first="Carla" last="Martins">Carla Martins</name>
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<name sortKey="Brunel Guitton, Catherine" sort="Brunel Guitton, Catherine" uniqKey="Brunel Guitton C" first="Catherine" last="Brunel-Guitton">Catherine Brunel-Guitton</name>
<name sortKey="Gauvin, France" sort="Gauvin, France" uniqKey="Gauvin F" first="France" last="Gauvin">France Gauvin</name>
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<name sortKey="Mitchell, Grant A" sort="Mitchell, Grant A" uniqKey="Mitchell G" first="Grant A." last="Mitchell">Grant A. Mitchell</name>
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<name sortKey="Pshezhetsky, Alexey V" sort="Pshezhetsky, Alexey V" uniqKey="Pshezhetsky A" first="Alexey V." last="Pshezhetsky">Alexey V. Pshezhetsky</name>
<name sortKey="Pshezhetsky, Alexey V" sort="Pshezhetsky, Alexey V" uniqKey="Pshezhetsky A" first="Alexey V." last="Pshezhetsky">Alexey V. Pshezhetsky</name>
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