دورية أكاديمية
Two Cases of Periodic Paralysis Associated With MCM3AP Variants.
| العنوان: | Two Cases of Periodic Paralysis Associated With MCM3AP Variants. |
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| المؤلفون: | Oishi T; Department of Neurology, Mayo Clinic, Rochester MN., Pagano J; AdventHealth Neuroscience Institute, Orlando, FL; and., Sellers C; Nova Southeastern University, Fort Lauderdale, FL., Jerath NU; AdventHealth Neuroscience Institute, Orlando, FL; and. |
| المصدر: | Journal of clinical neuromuscular disease [J Clin Neuromuscul Dis] 2023 Sep 01; Vol. 25 (1), pp. 36-41. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 100887391 Publication Model: Print Cited Medium: Internet ISSN: 1537-1611 (Electronic) Linking ISSN: 15220443 NLM ISO Abbreviation: J Clin Neuromuscul Dis Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Hagerstown, MD : Lippincott Williams & Wilkins, c1999- |
| مواضيع طبية MeSH: | Muscular Dystrophies*, Male ; Female ; Humans ; Child ; Adult ; Middle Aged ; Muscle, Skeletal ; Fatigue ; Genetic Testing ; Paralysis ; Acetyltransferases ; Intracellular Signaling Peptides and Proteins |
| مستخلص: | Objectives: Periodic paralysis is a rare genetic condition characterized by episodes of neuromuscular weakness, often provoked by electrolyte abnormalities, physiologic stress, physical exertion, and diet. In addition to mutations in genes coding for skeletal muscle ion channels, in 2019, Gustavasson et al discovered that the MCM3AP gene could be responsible for periodic paralysis. In this study, we present 2 individuals with clinical episodes of periodic paralysis who have variants in the MCM3AP gene. Methods: Two unrelated probands were independently evaluated with clinical, genetic, and electrodiagnostic testing. Results: Proband 1 is a 46-year-old man who presented with decades of ongoing episodic weakness and fatigue, clinically diagnosed with periodic paralysis and supported by electrodiagnostic studies. Proband 2 is a 34-year-old woman with a history of episodic paralysis since childhood. Genetic testing in both individuals revealed potentially pathogenic variants in the MCM3AP gene. Conclusions: Periodic paralysis is a condition that significantly affects the lives of those diagnosed. The results illustrate that MCM3AP gene variants can been associated with a clinical and electrodiagnostic presentation of periodic paralysis. Additional future research should focus on clarifying any relationship between these genetic variants and the disease, as well as other possible genetic causes. Competing Interests: The authors report no conflicts of interest. (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.) |
| References: | Patel H, Tiwana H, Mainali G, et al. Periodic paralysis in the phenotypic spectrum of CLCN1 gene mutation. Neurology. 2019;92. Sampedro Castañeda M, Zanoteli E, Scalco RS, et al. A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms. Brain. 2018;141:3308–3318. Luo S, Xu M, Sun J, et al. Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing. BMC Neurol. 2019;19:92. Ylikallio E, Woldegebriel R, Tumiati M, et al. MCM3AP in recessive Charcot-Marie-tooth neuropathy and mild intellectual disability. Brain. 2017;140:2093–2103. Gustavsson EK, Follett J, Farrer MJ, Aasly JO. Family with primary periodic paralysis and a mutation in mcm3ap, a gene implicated in mRNA transport. Muscle Nerve. 2019;60:311–314. Available at: https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV001376381.1. National Center for Biotechnology Information. ClinVar; [VCV001376381.1]. Available at: https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV001417614.1. National Center for Biotechnology Information. ClinVar; [VCV001417614.1]. Available at: https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV001352620.3. National Center for Biotechnology Information. ClinVar; [VCV001352620.3]. Yu X, Zheng Q, Zhang Q, et al. MCM3AP-AS1: an indispensable cancer-related lncrna. Front Cel Dev Biol. 2021;9:752718. Horpaopan S, Spier I, Zink AM, et al. Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis. Int J Cancer. 2015;136:578–589. Abe E, Kuwahara K, Yoshida M, et al. Structure, expression, and chromosomal localization of the human gene encoding a germinal center-associated nuclear protein (GANP) that associates with MCM3 involved in the initiation of DNA replication. Gene. 2000;255:219–227. Gatz SA, Salles D, Jacobsen E-M, et al. mcm3ap and pomp mutations cause a DNA-repair and DNA-damage-signaling defect in an immunodeficient child. Hum Mutat. 2016;37:257–268. Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, et al. Identification of pathogenic gene variants in small families with intellectually disabled siblings by Exome Sequencing. J Med Genet. 2013;50:802–811. Cheng Xr, Cui Xl, Zheng Y, et al. Nodes and biological processes identified on the basis of network analysis in the brain of the senescence accelerated mice as an alzheimer's disease animal model. Front Aging Neurosci. 2013;5. 10.3389/fnagi.2013.00065. (PMID: 10.3389/fnagi.2013.00065) Chen K, Xi M, Huang Q, et al. Long non-coding RNA MCM3AP antisense RNA 1 silencing upregulates microrna-24-3p to accelerate proliferation and migration of vascular endothelial cells in myocardial infarction rats by reducing EIF4G2. Cell Cycle. 2022;21:674–684. Yang C, Zheng J, Xue Y, et al. The effect of MCM3AP-AS1/Mir-211/Klf5/Aggf1 axis regulating glioblastoma angiogenesis. Front Mol Neurosci. 2017;10:437. Li X, Yu M, Yang C. Yy1‐mediated overexpression of long noncoding RNA MCM3AP‐AS1 accelerates angiogenesis and progression in lung cancer by targeting mir‐340‐5p/kpna4 axis. J Cell Biochem. 2020;121:2258–2267. Sedghi M, Moslemi A-R, Cabrera-Serrano M, et al. Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP. Brain Commun. 2019;1:fcz011. Dong HL, Wei Q, Li JQ, et al. Genetic spectrum of mcm3ap and its relationship with phenotype of charcot‐marie‐tooth disease. J Peripher Nervous Syst. 2020;25:107–111. Karakaya M, Mazaheri N, Polat I, et al. Biallelic MCM3AP mutations cause Charcot-Marie-tooth neuropathy with variable clinical presentation. Brain. 2017;140:65. Horpaopan S, Spier I, Zink AM, et al. Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis. Int J Cancer. 2015;136:E578–E589. |
| المشرفين على المادة: | EC 2.3.1.- (MCM3AP protein, human) EC 2.3.1.- (Acetyltransferases) 0 (Intracellular Signaling Peptides and Proteins) |
| تواريخ الأحداث: | Date Created: 20230823 Date Completed: 20230825 Latest Revision: 20230825 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1097/CND.0000000000000454 |
| PMID: | 37611268 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1537-1611 |
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| DOI: | 10.1097/CND.0000000000000454 |