RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature

Rahul Phadke^{1

2

3}, Carola Hedberg-Oldfors⁴, Renata S Scalco^{2

5}, David M Lowe⁶, Michael Ashworth⁷, Marco Novelli⁸, Roshni Vara⁹, Aine Merwick¹⁰, Halima Amer¹¹, Reecha Sofat¹¹, Max Sugarman¹², Ana Jovanovic¹², Mark Roberts¹³, Vasiliki Nakou¹⁴, Andrew King¹⁵, Istvan Bodi¹⁵, Heinz Jungbluth^{14

16

17}, Anders Oldfors⁴, Elaine Murphy¹⁸

Affiliations

¹ Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.
² MRC Centre for Neuromuscular Diseases, University College London, Queen Square, London, UK.
³ Division of Neuropathology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
⁴ Department of Pathology and Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
⁵ CAPES Foundation, Ministry of Education of Brazil, Brasilia DF, Brazil.
⁶ Department of Immunology, Royal Free Hospital, London, UK and Institute of Immunity and Transplantation, University College London, Royal Free Campus, London, UK.
⁷ Department of Histopathology, Great Ormond Street Hospital, London, UK.
⁸ Department of Histopathology, University College London NHS Foundation Trust, London, UK.
⁹ Department of Paediatric Inherited Metabolic Disease, Evelina London Children's Hospital, London, UK.
¹⁰ Department of Neurology, Beaumont Hospital, Dublin, Ireland.
¹¹ Department of Clinical Pharmacology, University College London NHS Foundation Trust, London, UK.
¹² Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.
¹³ Great Manchester Neurosciences Unit, Salford Royal NHS Foundation Trust, Salford, UK.
¹⁴ Department of Paediatric Neurology, Neuromuscular Service, Evelina London Children's Hospital, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK.
¹⁵ Department of Clinical Neuropathology, King's College Hospital, London, UK.
¹⁶ Randall Division for Cell and Molecular Biophysics, Muscle Signaling Section, King's College London, London, UK.
¹⁷ Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
¹⁸ Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

PMID: 32187699
DOI: 10.1002/jimd.12234

Review

RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature

Rahul Phadke et al. J Inherit Metab Dis. 2020 Sep.

. 2020 Sep;43(5):1002-1013.

doi: 10.1002/jimd.12234. Epub 2020 Apr 16.

Authors

Affiliations

¹ Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.
² MRC Centre for Neuromuscular Diseases, University College London, Queen Square, London, UK.
³ Division of Neuropathology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
⁴ Department of Pathology and Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
⁵ CAPES Foundation, Ministry of Education of Brazil, Brasilia DF, Brazil.
⁶ Department of Immunology, Royal Free Hospital, London, UK and Institute of Immunity and Transplantation, University College London, Royal Free Campus, London, UK.
⁷ Department of Histopathology, Great Ormond Street Hospital, London, UK.
⁸ Department of Histopathology, University College London NHS Foundation Trust, London, UK.
⁹ Department of Paediatric Inherited Metabolic Disease, Evelina London Children's Hospital, London, UK.
¹⁰ Department of Neurology, Beaumont Hospital, Dublin, Ireland.
¹¹ Department of Clinical Pharmacology, University College London NHS Foundation Trust, London, UK.
¹² Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.
¹³ Great Manchester Neurosciences Unit, Salford Royal NHS Foundation Trust, Salford, UK.
¹⁴ Department of Paediatric Neurology, Neuromuscular Service, Evelina London Children's Hospital, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK.
¹⁵ Department of Clinical Neuropathology, King's College Hospital, London, UK.
¹⁶ Randall Division for Cell and Molecular Biophysics, Muscle Signaling Section, King's College London, London, UK.
¹⁷ Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
¹⁸ Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

PMID: 32187699
DOI: 10.1002/jimd.12234

Abstract

In this article, we report four new patients, from three kindreds, with pathogenic variants in RBCK1 and a multisystem disorder characterised by widespread polyglucosan storage. We describe the clinical presentation of progressive skeletal and cardiac myopathy, combined immunodeficiencies and auto-inflammation, illustrate in detail the histopathological findings in multiple tissue types, and report muscle MRI findings.

Keywords: RBCK1; auto-inflammation; cardio; glycogen; myopathy; polyglucosan.

PubMed Disclaimer

References

REFERENCES

1. Boisson B, Laplantine E, Prando C, et al. Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol. 2012;13(12):1178-1186.
1. Nilsson J, Schoser B, Laforet P, et al. Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol. 2013;74(6):914-919.
1. Wang K, Kim C, Bradfield J, et al. Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement. Genome Med. 2013;5(7):67.
1. Schoser B, Bruno C, Schneider HC, et al. Unclassified polysaccharidosis of the heart and skeletal muscle in siblings. Mol Genet Metab. 2008;95(1-2):52-58.
1. Krenn M, Salzer E, Simonitsch-Klupp I, et al. Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum. J Neurol. 2018;265(2):394-401.

Publication types

Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions
Actions
Actions
Actions

Grants and funding

DH_/Department of Health/United Kingdom

LinkOut - more resources

Full Text Sources
- Ovid Technologies, Inc.
- Wiley
Molecular Biology Databases
- The Weizmann Institute of Science GeneCards and MalaCards databases

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature

Affiliations

RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature

Authors

Affiliations

Abstract

References

REFERENCES

Publication types

MeSH terms

Substances

Grants and funding

LinkOut - more resources

Full Text Sources

Molecular Biology Databases