Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-09-16

AUTHORS

Sunitha Balaraju, Ana Töpf, Grace McMacken, Veeramani Preethish Kumar, Astrid Pechmann, Helen Roper, Seena Vengalil, Kiran Polavarapu, Saraswati Nashi, Niranjan Prakash Mahajan, Ines A. Barbosa, Charu Deshpande, Robert W. Taylor, Judith Cossins, David Beeson, Steven Laurie, Janbernd Kirschner, Rita Horvath, Robert McFarland, Atchayaram Nalini, Hanns Lochmüller

ABSTRACT

Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of disorders caused by mutations which lead to impaired neuromuscular transmission. SLC25A1 encodes a mitochondrial citrate carrier, associated mainly with the severe neurometabolic disease combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA). We previously reported a single family with a homozygous missense variant in SLC25A1 with a phenotype restricted to relatively mild CMS with intellectual disability, but to date no additional cases of this CMS subtype had been reported. Here, we performed whole exome sequencing (WES) in three additional and unrelated families presenting with CMS and mild intellectual disability to identify the underlying causative gene. The WES analysis revealed the presence of a homozygous c.740G>A; p.(Arg247Gln) missense SLC25A1 variant, the same SLC25A1 variant as identified in the original family with this phenotype. Electron microscopy of muscle from two cases revealed enlarged and accumulated mitochondria. Haplotype analysis performed in two unrelated families suggested that this variant is a result of recurrent mutation and not a founder effect. This suggests that p.(Arg247Gln) is associated with a relatively mild CMS phenotype with subtle mitochondrial abnormalities, while other variants in this gene cause more severe neurometabolic disease. In conclusion, the p.(Arg247Gln) SLC25A1 variant should be considered in patients presenting with a presynaptic CMS phenotype, particularly with accompanying intellectual disability. More... »

PAGES

373-377

Journal

TITLE

European Journal of Human Genetics

ISSUE

3

VOLUME

28

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41431-019-0506-2

DOI

http://dx.doi.org/10.1038/s41431-019-0506-2

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1121009256

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/31527857


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350 schema:name Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences King’s College London, London, UK
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352 grid-institutes:grid.413964.d schema:alternateName Department of Paediatrics, Heartlands Hospital, Birmingham, UK
353 schema:name Department of Paediatrics, Heartlands Hospital, Birmingham, UK
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355 grid-institutes:grid.416861.c schema:alternateName Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bengaluru, India
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357 schema:name Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bengaluru, India
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360 grid-institutes:grid.420545.2 schema:alternateName Clinical Genetics Unit, Guys and St Thomas’ NHS Foundation Trust, London, UK
361 schema:name Clinical Genetics Unit, Guys and St Thomas’ NHS Foundation Trust, London, UK
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363 grid-institutes:grid.421962.a schema:alternateName Neurosciences Group, Nuffield Department of Clinical Neuroscience, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
364 schema:name Neurosciences Group, Nuffield Department of Clinical Neuroscience, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
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366 grid-institutes:grid.450004.5 schema:alternateName Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK
367 schema:name Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK
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369 grid-institutes:grid.452341.5 schema:alternateName Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain
370 schema:name Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain
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372 grid-institutes:grid.5335.0 schema:alternateName Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge, UK
373 schema:name Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge, UK
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375 grid-institutes:grid.7708.8 schema:alternateName Department of Neuropediatrics and Muscle Disorders, Medical Center–University of Freiburg, Faculty of Medicine, Freiburg, Germany
376 schema:name Department of Neuropediatrics and Muscle Disorders, Medical Center–University of Freiburg, Faculty of Medicine, Freiburg, Germany
377 rdf:type schema:Organization
 




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