Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant |
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| Affiliation: | 2. Dipartimento di Medicina di Precisione, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, Italy;10. Neurology Clinic II and Reference Center for Rare Neuromuscular Disorders, Department of Medical Sciences, Surgery, Neurology, Metabolic Diseases and Geriatrics, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, Italy;11. Dipartimento di Medicina Sperimentale, Cardiomiologia e Genetica Medica, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, Italy;1. The Folkhaelsan Department of Medical Genetics, The Folkhaelsan Institute of Genetics and the Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland;2. Children''s Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland;3. John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon-Tyne, United Kingdom;4. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA;5. Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA;6. Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden;7. Department of Clinical Pathology, Uppsala University Hospital, Uppsala, Sweden;8. Åland Central Hospital, Mariehamn, Åland, Finland;1. Division of Neurology, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand;2. Division of Hematology, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand;3. Department of Pathology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok Thailand;4. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo Japan;1. Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Observatory, Cape Town 7935, South Africa;2. Redox Laboratories, Cape Town 7935, South Africa;3. Department of Paediatric Neurology and Neurophysiology, Neuroscience Institute, Red Cross War Memorial Children''s Hospital, University of Cape Town, Rondebosch, Cape Town 7700, South Africa;4. National Health Laboratory Service, Groote Schuur Hospital, Observatory, Cape Town 7935, South Africa |
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| Abstract: | Neutral lipid storage disease with myopathy is a rare disorder of lipid metabolism caused by variants in the Patatin-Like Phospholipase Domain Containing 2 (PNPLA2) gene. Diagnosis is often delayed due to variable presentations, which is of concern due to increased risk of cardiomyopathy. Better phenotype–genotype characterization is necessary to improve speed and accuracy of diagnosis. Here, we describe a 32-year-old woman of Hmong descent with progressive muscle pain and weakness who had a muscle biopsy with characteristic features of a lipid storage myopathy. Genetic testing revealed a homozygous splice site variant in PNPLA2, c.757 + 1G > T. This case, in combination with the one previously reported case of this PNPLA2 variant, also in a family of Hmong descent, suggests this particular variant may be unique to the Hmong population, a Southeast Asian minority group living in the United States, who immigrated to the United States as refugees after the Vietnam War. |
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