一例PYGM基因复合杂合突变导致糖原累积症V型的诊断和基因检测分析
收稿日期: 2022-06-30
修回日期: 2022-09-07
网络出版日期: 2022-09-16
基金资助
国家重点研发计划(2019YFA0802701);国家重点研发计划(2018YFA0506904);国家自然科学基金面上项目(82170882);国家自然科学基金重大研究计划培育项目(91854122)
Diagnosis and genetic analysis of a case with glycogen storage disease type V caused by compound heterozygous mutations in the PYGM gene
Received date: 2022-06-30
Revised date: 2022-09-07
Online published: 2022-09-16
Supported by
the National Key Research and Development Program of China(2019YFA0802701);the National Key Research and Development Program of China(2018YFA0506904);the National Natural Science Foundation of China(82170882);the Major Research Plan of the National Natural Science Foundation of China(91854122)
糖原累积症V型是一种由肌糖原磷酸化酶(muscle glycogen phosphorylase，PYGM)缺陷引起的常染色体隐性遗传疾病，其临床特征为运动不耐受、再振作现象和血清肌酸激酶水平增高。本文报道了1例中国糖原累积症V型年轻男性患者，运动后双下肢无力、血肌酸激酶升高、肌肉磁共振可见下肢近端后群肌轻度脂肪浸润，基因检测结果显示先证者具有复合杂合型PYGM致病突变，分别为来自母亲的c.308T>C (p.L103P)变异和来自父亲的c.260_261delCT (p.S87Ffs*23)变异，其中前者为新发突变。本研究丰富了PYGM致病基因突变谱，有助于提高临床医生对糖原累积症V型的认识，并为该疾病的进一步遗传学研究提供参考。
蒋琬姿, 徐昳文, 王依文, 朱肖诚, 龚颖芸, 周红文, 付真真 . 一例PYGM基因复合杂合突变导致糖原累积症V型的诊断和基因检测分析[J]. 遗传, 2022 , 44(11) : 1063 -1071 . DOI: 10.16288/j.yczz.22-223
Glycogen storage disease type V is an autosomal recessive genetic disorder caused by muscle glycogen phosphorylase (PYGM) deficiency, which is characterized by exercise intolerance, second wind phenomena and high level of serum creatine kinase. In this study, we reported a Chinese young man with glycogen storage disease type V, with lower extremity weakness after exercise, increased creatine kinase, and slight fat infiltration in the posterior group of thigh muscle by magnetic resonance imaging (MRI). The proband had complex heterozygous PYGM disease-causing mutations, including c.308T>C (p.L103P) variant transmitted from the mother and c.260_261delCT (p.S87Ffs*23) from the father, of which the former was a novel PYGM mutation. This study enriched the PYGM pathogenic gene mutation spectrum, contributed to improve clinicians' understanding of glycogen storage disease type V and provided a reference for further genetic study of the disease.
Key words： glycogen storage disease type V; McArdle disease; PYGM; rare disease
| [1] | Santalla A, Nogales-Gadea G, Encinar AB, Vieitez I, González-Quintana A, Serrano-Lorenzo P, Consuegra IG, Asensio S, Ballester-Lopez A, Pintos-Morell G, Coll- CantíJ, Pareja-Galeano H, Díez-Bermejo J, Pérez M, Andreu AL, Pinós T, Arenas J, Martín MA, Lucia A.Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update. BMC Genomics, 2017, 18(Suppl 8): 819. |
| [2] | De Castro M, Johnston J, Biesecker L. Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data. Genet Med, 2015, 17(12): 1002-1006. |
| [3] | McARDLE B. Myopathy due to a defect in muscle glycogen breakdown. Clin Sci, 1951, 10(1): 13-35. |
| [4] | Lebo RV, Anderson LA, DiMauro S, Lynch E, Hwang P, Fletterick R. Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence. Hum Genet, 1990, 86(1): 17-24. |
| [5] | Schmid R, Mahler R. Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J Clin Invest, 1959, 38: 2044-2258. |
| [6] | 中华医学会神经病学分会, 中华医学会神经病学分会神经肌肉病学组, 中华医学会神经病学分会肌电图与临床神经生理学组. 中国糖原累积性肌病诊治指南. 中华神经科杂志, 2016, 49(1): 8-16. |
| [7] | Braakhekke JP, de Bruin MI, Stegeman DF, Wevers RA, Binkhorst RA, Joosten EM. The second wind phenomenon in McArdle's disease. Brain, 1986, 109 (Pt 6): 1087-1101. |
| [8] | Haller RG, Vissing J. Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms. Arch Neurol, 2002, 59(9): 1395-1402. |
| [9] | Witting N, Duno M, Piraud M, Vissing J. Severe axial myopathy in McArdle disease. JAMA Neurol, 2014, 71(1): 88-90. |
| [10] | Quinlivan R, Buckley J, James M, Twist A, Ball S, Duno M, Vissing J, Bruno C, Cassandrini D, Roberts M, Winer J, Rose M, Sewry C. McArdle disease: a clinical review. J Neurol Neurosurg Psychiatry, 2010, 81(11): 1182-1188. |
| [11] | Martinuzzi A, Sartori E, Fanin M, Nascimbeni A, Valente L, Angelini C, Siciliano G, Mongini T, Tonin P, Tomelleri G, Toscano A, Merlini L, Bindoff LA, Bertelli S. Phenotype modulators in myophosphorylase deficiency. Ann Neurol, 2003, 53(4): 497-502. |
| [12] | Nogales-Gadea G, Santalla A, Brull A, de Luna N, Lucia A, Pinós T. The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications. J Inherit Metab Dis, 2015, 38(2): 221-230. |
| [13] | Rubio JC, Garcia-Consuegra I, Nogales-Gadea G, Blazquez A, Cabello A, Lucia A, Andreu AL, Arenas J, Martin MA. A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients. Hum Mutat, 2007, 28(2): 203-204. |
| [14] | Quinlivan R, Andreu AL, Marti R, Workshop P.211th ENMC International Workshop:development of diagnostic criteria and management strategies for McArdle disease and related rare glycogenolytic disorders to improve standards of care. 17-19 April 2015, Naarden, the Netherlands. Neuromuscul Disord, 2017, 27(12): 1143-1151. |
| [15] | Wu J, Hu Y, Li CY, Yi LY. Association study of PYGM gene and haplotypes with women endurance athletes physiological phenotypes. Journal of Capital University of Physical Education and Sports, 2014, 26(4): 376-379. |
| [15] | 吴剑, 胡扬, 李燕春, 衣龙彦. PYGM基因SNP及单体型多态性与女子长跑运动员生理表型的关联性. 首都体育学院学报, 2014, 26(4): 376-379. |
| [16] | 沈定国. McArdle氏病的不常见类型一例报告. 中华神经精神科杂志, 1985, 18(3): 184. |
| [17] | 岳冬曰, 高名士, 罗苏珊, 刘华, 李颖, 易芳芳, 赵重波, 毕海霞. McArdle病二例. 中华神经科杂志, 2017, 50(1): 56-58. |
| [18] | 沙松林, 戴蔼善, 王宗根, 倪赞明, 邱传禄, 钟学礼, 朱世能. 肌糖原累积病一例报告. 中华内科杂志, 1981, 20(9): 563-564. |
| [19] | 刘志军, 张小荣, 杨瑞龙, 李妍怡. 早期McArdle病1例报告. 中风与神经疾病杂志, 2014, 31(2): 179-180. |
| [20] | Xie RR, Yang YB, Jin P. Identification of a novel PYGM mutation in a McArdle disease patient misdiagnosed as hypokalemic periodic paralysis. J Endocrinol Invest, 2020, 43(5): 697-698. |
| [21] | 刘华旭.糖原累积性肌病的基因特征、自噬及蛋白质组学研究[学位论文]. 中国人民解放军医学院, 2018. |
| [22] | 张睿.糖原累积病2例临床与基因分析[学位论文]. 山东大学, 2016. |
| [23] | 代英杰.糖原累积病临床病理分析[学位论文]. 中国协和医科大学, 2009. |
| [24] | Lau NKC, Chong YK, Cheung KPK, Loo KT, Ching CK. McArdle disease presenting as abnormal liver function: biochemical, anatomical and genetic characterisation in the first genetically confirmed Chinese family with a novel splicing variant. Pathology, 2021, 53(5): 670-673. |
| [25] | Satoh A, Hirashio S, Arima T, Yamada Y, Irifuku T, Ishibashi H, Motoda A, Sueda Y, Masaki T. Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis. CEN Case Rep, 2019, 8(3): 194-199. |
| [26] | üsküdar Cansu D, Erdo?an B, Korkmaz C. Can hyperuricemia predict glycogen storage disease (McArdle's disease) in rheumatology practice? (Myogenic hyperuricemia). Clin Rheumatol, 2019, 38(10): 2941-2948. |
| [27] | Kitaoka Y, Ogborn DI, Nilsson MI, Mocellin NJ, MacNeil LG, Tarnopolsky MA. Oxidative stress and Nrf2 signaling in McArdle disease. Mol Genet Metab, 2013, 110(3): 297-302. |
| [28] | Andersen ST, Haller RG, Vissing J. Effect of oral sucrose shortly before exercise on work capacity in McArdle disease. Arch Neurol, 2008, 65(6): 786-789. |
| [29] | Andersen ST, Vissing J. Carbohydrate- and protein-rich diets in McArdle disease: effects on exercise capacity. J Neurol Neurosurg Psychiatry, 2008, 79(12): 1359-1363. |
| [30] | Haller RG, Wyrick P, Taivassalo T, Vissing J. Aerobic conditioning: an effective therapy in McArdle's disease. Ann Neurol, 2006, 59(6): 922-928. |
| [31] | Maté-Mu?oz JL, Moran M, Pérez M, Chamorro-Vi?a C, Gómez-Gallego F, Santiago C, Chicharro L, Foster C, Nogales-Gadea G, Rubio JC, Andreu AL, Martín MA, Arenas J, Lucia A. Favorable responses to acute and chronic exercise in McArdle patients. Clin J Sport Med, 2007, 17(4): 297-303. |
| [32] | Phoenix J, Hopkins P, Bartram C, Beynon RJ, Quinlivan RC, Edwards RH. Effect of vitamin B6 supplementation in McArdle's disease: a strategic case study. Neuromuscul Disord, 1998, 8(3-4): 210-212. |
| [33] | McCormick Z, Chu SK, Chang-Chien GC, Joseph P. Acute pain control challenges with buprenorphine/naloxone therapy in a patient with compartment syndrome secondary to McArdle's disease: a case report and review. Pain Med, 2013, 14(8): 1187-1191. |
| [34] | Sato S, Ohi T, Nishino I, Sugie H. Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow-up muscle biopsy. Muscle Nerve, 2012, 45(3): 436-440. |
| [35] | Vorgerd M, Grehl T, Jager M, Muller K, Freitag G, Patzold T, Bruns N, Fabian K, Tegenthoff M, Mortier W, Luttmann A, Zange J, Malin JP. Creatine therapy in myophosphorylase deficiency (McArdle disease): a placebo-controlled crossover trial. Arch Neurol, 2000, 57(7): 956-963. |
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