دورية أكاديمية
أعرض في EDS

Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.

التفاصيل البيبلوغرافية
العنوان: Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.
المؤلفون: Lee HH; Department of Pathology, Princess Margaret Hospital, Hong Kong., Wong S; Department of Pathology, Princess Margaret Hospital, Hong Kong.; Pathology Department, St. Paul's Hospital, Hong Kong., Sheng B; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong., Pan NK; Department of Diagnostic Radiology, Princess Margaret Hospital, Hong Kong., Leung YF; Department of Pathology, Princess Margaret Hospital, Hong Kong., Lau KD; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong., Cheng YS; Department of Clinical Pathology, Pamela Youde Nethersole Eastern Hospital, Hong Kong.; Department of Clinical Laboratory, Gleneagles Hong Kong Hospital, Hong Kong., Ho LC; Department of Pathology, Queen Elizabeth Hospital, Hong Kong., Li R; Department of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong., Lee CN; Department of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong., Tsoi TH; Department of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong., Cheung YN; Department of Medicine, Queen Elizabeth Hospital, Hong Kong., Fu YM; Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong., Kan NA; Department of Clinical Pathology, Tuen Mun Hospital, Hong Kong., Chu YP; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong., Au WL; Department of Medicine and Therapeutics, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong., Yeung HJ; Department of Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong., Li SH; Department of Medicine, North District Hospital, Hong Kong., Cheung CM; Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong., Tong HF; Department of Pathology, Princess Margaret Hospital, Hong Kong., Hung LE; Department of Pathology, Princess Margaret Hospital, Hong Kong., Chan TY; Department of Pathology, Princess Margaret Hospital, Hong Kong., Li CT; Department of Pathology, Princess Margaret Hospital, Hong Kong., Tong TT; Department of Pathology, Princess Margaret Hospital, Hong Kong., Tong TC; Department of Pathology, Princess Margaret Hospital, Hong Kong., Leung HC; Department of Pathology, Princess Margaret Hospital, Hong Kong., Lee KH; Department of Pathology, Princess Margaret Hospital, Hong Kong., Yeung SS; Department of Pathology, Princess Margaret Hospital, Hong Kong., Lee SB; Department of Pathology, Princess Margaret Hospital, Hong Kong., Lau TG; Department of Pathology, Queen Elizabeth Hospital, Hong Kong., Lam CW; Department of Pathology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong., Mak CM; Department of Pathology, Princess Margaret Hospital, Hong Kong., Chan AY; Department of Pathology, Princess Margaret Hospital, Hong Kong.
المصدر: Clinical genetics [Clin Genet] 2020 May; Vol. 97 (5), pp. 747-757. Date of Electronic Publication: 2020 Feb 23.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Copenhagen, Munksgaard.
مواضيع طبية MeSH: Filamins/*genetics , Muscle, Skeletal/*pathology , Myopathies, Structural, Congenital/*genetics, Adult ; Aged ; Asian People ; Electromyography ; Female ; Founder Effect ; Hong Kong/epidemiology ; Humans ; Male ; Middle Aged ; Muscle Weakness/diagnostic imaging ; Muscle Weakness/genetics ; Muscle Weakness/pathology ; Muscle, Skeletal/diagnostic imaging ; Mutation/genetics ; Myopathies, Structural, Congenital/epidemiology ; Myopathies, Structural, Congenital/pathology ; Pedigree ; Phenotype
مستخلص: FLNC-related myofibrillar myopathy could manifest as autosomal dominant late-onset slowly progressive proximal muscle weakness; involvements of cardiac and/or respiratory functions are common. We describe 34 patients in nine families of FLNC-related myofibrillar myopathy in Hong Kong ethnic Chinese diagnosed over the last 12 years, in whom the same pathogenic variant c.8129G>A (p.Trp2710*) was detected. Twenty-six patients were symptomatic when diagnosed; four patients died of pneumonia and/or respiratory failure. Abnormal amorphous material or granulofilamentous masses were detected in half of the cases, with mitochondrial abnormalities noted in two-thirds. We also show by haplotype analysis the founder effect associated with this Hong Kong variant, which might have occurred 42 to 71 generations ago or around Tang and Song dynasties, and underlain a higher incidence of myofibrillar myopathy among Hong Kong Chinese. The late-onset nature and slowly progressive course of the highly penetrant condition could have significant impact on the family members, and an early diagnosis could benefit the whole family. Considering another neighboring founder variant in FLNC in German patients, we advocate development of specific therapies such as chaperone-based or antisense oligonucleotide strategies for this particular type of myopathy.
(© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
References: Fichna JP, Maruszak A, Zekanowski C. Myofibrillar myopathy in the genomic context. J Appl Genet. 2018;59:431-439.
Selcen D. Myofibrillar myopathies. Neuromuscul Disord. 2011;21:161-171.
Selcen D, Bromberg MB, Chin SS, Engel AG. Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. Neurology. 2011;77:1951-1959.
Winter L, Kuznetsov AV, Grimm M, Zeöld A, Fischer I, Wiche G. Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle. Hum Mol Genet. 2015;24:4530-4544.
Sarparanta J, Jonson PH, Golzio C, et al. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet. 2012;44:450-455. S451-452.
Ghaoui R, Palmio J, Brewer J, et al. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology. 2016;86:391-398.
Vorgerd M, van der Ven PF, Bruchertseifer V, et al. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet. 2005;77:297-304.
Duff RM, Tay V, Hackman P, et al. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet. 2011;88:729-740.
Borch JS, Eisum AV, Krag T, Vissing J. Expanding the phenotype of filamin-C-related myofibrillar myopathy. Clin Neurol Neurosurg. 2019;176:30-33.
Tasca G, Odgerel Z, Monforte M, et al. Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. Muscle Nerve. 2012;46:275-282.
Valdes-Mas R, Gutierrez-Fernandez A, Gomez J, et al. Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. Nat Commun. 2014;5:5326.
Gomez J, Lorca R, Reguero JR, et al. Screening of the filamin C gene in a large cohort of hypertrophic cardiomyopathy patients. Circ Cardiovasc Genet. 2017;10:e001584.
Brodehl A, Ferrier RA, Hamilton SJ, et al. Mutations in FLNC are associated with familial restrictive cardiomyopathy. Hum Mutat. 2016;37:269-279.
Tucker NR, McLellan MA, Hu D, et al. Novel mutation in FLNC (filamin C) causes familial restrictive cardiomyopathy. Circ Cardiovasc Genet. 2017;10:e001780.
Boehnke M. Limits of resolution of genetic linkage studies: implications for the positional cloning of human disease genes. Am J Hum Genet. 1994;55:379-390.
Tester DJ, Ackerman MJ. Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice. Circulation. 2011;123:1021-1037.
Pudas R, Kiema TR, Butler PJ, Stewart M, Ylanne J. Structural basis for vertebrate filamin dimerization. Structure. 2005;13:111-119.
Shatunov A, Olive M, Odgerel Z, et al. In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. Eur J Hum Genet. 2009;17:656-663.
Williams DR, Reardon K, Roberts L, et al. A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles. Neurology. 2005;64:1245-1254.
Janin A, N'Guyen K, Habib G, et al. Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy. Clin Genet. 2017;92:616-623.
Lee HC, Cherk SW, Chan SK, et al. BAG3-related myofibrillar myopathy in a Chinese family. Clin Genet. 2012;81:394-398.
Lee HH, Lau WL, Ko CH, et al. Flexi-Myo panel strategy: genomic diagnoses of myopathies and muscular dystrophies by next-generation sequencing. Genet Test Mol Biomarkers. 2020;24:99-104.
Kley RA, Hellenbroich Y, van der Ven PF, et al. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain. 2007;130:3250-3264.
Lowe T, Kley RA, van der Ven PF, et al. The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy. Hum Mol Genet. 2007;16:1351-1358.
Kley RA, Serdaroglu-Oflazer P, Leber Y, et al. Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. Brain. 2012;135:2642-2660.
Kley RA, van der Ven PF, Olive M, et al. Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. Autophagy. 2013;9:422-423.
Liu S, Huang S, Chen F, et al. Genomic analyses from non-invasive prenatal testing reveal genetic associations, patterns of viral infections, and Chinese population history. Cell. 2018;175:347-359.e314.
Song S, Tian D, Li C, et al. Genome variation map: a data repository of genome variations in BIG Data Center. Nucleic Acids Res. 2018;46:D944-D949.
Ling Y, Jin Z, Su M, et al. VCGDB: a dynamic genome database of the Chinese population. BMC Genomics 2014; 15: 265.
Miao J, Su FF, Liu XM, Wei XJ, Yuan Y, Yu XF. A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family. BMC Neurol. 2018;18:79.
Zhang YT, Pu CQ, Ban R, Liu HX, Shi Q, Lu XH. Clinical, pathological, and genetic features of two Chinese cases with filamin C myopathy. Chin Med J (Engl). 2018;131:2986-2988.
Cui H, Wang J, Zhang C, et al. Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy. Mol Genet Genomic Med. 2018;6:1104-1113.
Ma Y, Huang J, Zhou Z. Letter by Ma et al regarding article, “Novel mutation in FLNC (filamin C) causes familial restrictive cardiomyopathy”. Circ Genom Precis Med. 2018;11:e002117.
Chen J, Wu J, Han C, Li Y, Guo Y, Tong X. A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report. BMC Neurol 2019; 19: 198.
Jackson S, Schaefer J, Meinhardt M, Reichmann H. Mitochondrial abnormalities in the myofibrillar myopathies. Eur J Neurol. 2015;22:1429-1435.
Cerino M, Gorokhova S, Laforet P, et al. Genetic characterization of a French cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing. Muscle Nerve. 2017;56:993-997.
Ravi B, Antonellis A, Sumner CJ, Lieberman AP. Genetic approaches to the treatment of inherited neuromuscular diseases. Hum Mol Genet. 2019;28:R55-R64.
فهرسة مساهمة: Keywords: Chinese; Hong Kong; filamin C; filaminopathy; founder effect; haplotypes; myofibrillar myopathy
المشرفين على المادة: 0 (FLNC protein, human)
0 (Filamins)
SCR Disease Name: Myofibrillar Myopathy
تواريخ الأحداث: Date Created: 20200206 Date Completed: 20210607 Latest Revision: 20221207
رمز التحديث: 20240628
DOI: 10.1111/cge.13715
PMID: 32022900
قاعدة البيانات: MEDLINE
الوصف
تدمد:1399-0004
DOI:10.1111/cge.13715