Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene
- Affiliations
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- 1Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
- 2Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yuhs.ac
- 3Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
- 4Department of Clinical Pharmacology and Therapeutics, College of Medicine, Kyung Hee University, Seoul, Korea.
- KMID: 2364912
- DOI: http://doi.org/10.3988/jcn.2017.13.1.116
Abstract
- No abstract available.
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Figure
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Fig. 1 Pedigree, sequencing chromatograms, whole-spine X-ray images, and pathology results. A: Pedigree of a Korean patient with compound heterozygous pathogenic variants of TTN. Arrows indicate the proband (square: male; circle: female; filled: affected; unfilled: unaffected). B: Sequencing chromatograms of the c.14372-2A>G and c.102523C>T (p.Arg34175*) TTN variants. Arrows indicate pathogenic or likely pathogenic variant sites. C: Whole-spine X-ray images. D, E, and F: Histopathology of the biceps brachii. D: Hematoxylin and eosin (H&E) staining of biceps brachii muscle tissue revealing moderate variations of fiber size and shape in addition to many fibers having internalized nuclei. E: Intracytoplasmic inclusions and subsarcolemmal depositions were not found in modified Gomori trichrome (GT) staining. F: Staining with nicotinamide adenine dinucleotide-tetrazolium reductase (NADH-tr) demonstrated the predominance of type I fibers (approximately 84%). (D: H&E stain, ×200; E: modified GT stain, ×200; F: NADH-tr stain, ×100).
Reference
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1. Yue D, Gao M, Zhu W, Luo S, Xi J, Wang B, et al. New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. Neuromuscul Disord. 2015; 25:172–176.
Article2. Park HJ, Jang H, Kim JH, Lee JH, Shin HY, Kim SM, et al. Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. Clin Genet. 2016; 07. 01. DOI: 10.1111/cge.12826.
Article3. Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013; 81:1205–1214.
Article4. Chauveau C, Rowell J, Ferreiro A. A rising titan: TTN review and mutation update. Hum Mutat. 2014; 35:1046–1059.
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