Clinical, pathological and genetic characteristics of a pedigree with myotonic dystrophy type 1

Liu,Qing; Zheng,Yu‑Fei; Zhu,Yan‑Ping; Ling,Shi‑Qing; Li,Wei‑Rong

doi:10.3892/etm.2015.2738

Clinical, pathological and genetic characteristics of a pedigree with myotonic dystrophy type 1

Authors:
- Qing Liu
- Yu‑Fei Zheng
- Yan‑Ping Zhu
- Shi‑Qing Ling
- Wei‑Rong Li
View Affiliations

Affiliations: Department of Neurology, Taiyuan Central Hospital of Shanxi Medical University, Taiyuan, Shanxi 030009, P.R. China
Published online on: September 9, 2015 https://doi.org/10.3892/etm.2015.2738
Pages: 1931-1936

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

The aim of the present study was to investigate the clinical, pathological and molecular genetic characteristics of a pedigree with myotonic dystrophy type 1 (DM1). A series of clinical data from a pedigree with DM1 were collected. Muscle biopsy revealed a typical nuclear ingression within numerous muscle fibers following hematoxylin and eosin staining. Genomic DNA was extracted from the venous blood of two patients and the triplet‑primed polymerase chain reaction method was performed to amplify the dystrophia myotonic protein kinase (DMPK) gene. The amplified products were subjected to gene sequencing by capillary fluorescence electrophoresis, and a pathogenic mutation in the DMPK gene comprising >50 cytosine‑thymine‑guanine repeat sequences was found. DM1 includes multi‑system damage, as well as skeletal muscle involvement, and can affect the central nervous system, endocrine glands, skin and heart. A skeletal muscle biopsy and genetic testing can confirm the diagnosis and clarify the severity of the disease. In addition, it is necessary to distinguish DM1 from DM2.

View Figures

View References

1	Steinberg H and Wagner A: Hans Steinert: 100 years of myotonic dystrophy. Nervenarzt. 79:961–962. 2008.(In German). View Article : Google Scholar : PubMed/NCBI
2	Pavićević D Savić, Miladinović J, Brkušanin M, Šviković S, Djurica S, Brajušković G and Romac S: Molecular genetics and genetic testing in myotonic dystrophy type 1. Biomed Res Int. 2013:3918212013. View Article : Google Scholar : PubMed/NCBI
3	Valaperta R, Sansone V, Lombardi F, Verdelli C, Colombo A, Valisi M, Brigonzi E, Costa E and Meola G: Identification and characterization of DM1 patients by a new diagnostic certified assay: Neuromuscular and cardiac assessments. Biomed Res Int. 2013:9585102013. View Article : Google Scholar : PubMed/NCBI
4	Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Otto M, Heine R and Moxley RT: 3rd: Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology. 44:1448–1452. 1994. View Article : Google Scholar : PubMed/NCBI
5	Kamsteeg EJ, Kress W, Catalli C, Hertz JM, Witsch-Baumgartner M, Buckley MF, van Engelen BG, Schwartz M and Scheffer H: Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. Eur J Hum Genet. 20:1203–1208. 2012. View Article : Google Scholar : PubMed/NCBI
6	Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW and Ranum LP: Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 293:864–867. 2001. View Article : Google Scholar : PubMed/NCBI
7	Kurosaki T, Ueda S, Ishida T, Abe K, Ohno K and Matsuura T: The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome. PLoS One. 7:e383792012. View Article : Google Scholar : PubMed/NCBI
8	Machuca-Tzili L, Brook D and Hilton-Jones D: Clinical and molecular aspects of the myotonic dystrophies: A review. Muscle Nerve. 32:1–18. 2005. View Article : Google Scholar : PubMed/NCBI
9	Logigian EL, Blood CL, Dilek N, Martens WB, Moxley RTIV, Wiegner AW, Thornton CA and Moxley RT III: Quantitative analysis of the ‘warm-up’ phenomenon in myotonic dystrophy type 1. Muscle Nerve. 32:35–42. 2005. View Article : Google Scholar : PubMed/NCBI
10	Meola G: Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies. Acta Myol. 32:154–165. 2013.PubMed/NCBI
11	Udd B, Meola G, Krahe R, Wansink DG, Bassez G, Kress W, Schoser B and Moxley R: Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3–5 December 2010, Naarden, The Netherlands. Neuromuscul Disord. 21:443–450. 2011. View Article : Google Scholar : PubMed/NCBI
12	Li M, Wang Z, Cui F, Yang F, Chen Z, Ling L, Pu C and Huang X: Investigation of molecular diagnosis in Chinese patients with myotonic dystrophy type 1. Chin Med J (Engl). 127:1084–1088. 2014.PubMed/NCBI
13	Addis M, Serrenti M, Meloni C, Cau M and Melis MA: Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type 1. Genet Test Mol Biomarkers. 16:1428–1431. 2012. View Article : Google Scholar : PubMed/NCBI
14	Singh S, Zhang A, Dlouhy S and Bai S: Detection of large expansions in myotonic dystrophy type 1 using triplet primed PCR. Front Genet. 5:942014. View Article : Google Scholar : PubMed/NCBI
15	Turner C and Hilton-Jones D: The myotonic dystrophies: Diagnosis and management. J Neurol Neurosurg Psychiatry. 81:358–367. 2010. View Article : Google Scholar : PubMed/NCBI
16	Ashizawa T: Myotonic dystrophy as a brain disorder. Arch Neurol. 55:291–293. 1998. View Article : Google Scholar : PubMed/NCBI
17	Steyaert J, Umans S, Willekens D, Legius E, Pijkels E, de Die-Smulders C, Van den Berghe H and Fryns JP: A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy. Clin Genet. 52:135–141. 1997. View Article : Google Scholar : PubMed/NCBI
18	Krishnan AV and Kiernan MC: Axonal function and activity-dependent excitability changes in myotonic dystrophy. Muscle Nerve. 33:627–636. 2006. View Article : Google Scholar : PubMed/NCBI
19	Lund M, Diaz LJ, Ranthe MF, Petri H, Duno M, Juncker I, Eiberg H, Vissing J, Bundgaard H, Wohlfahrt J and Melbye M: Cardiac involvement in myotonic dystrophy: A nationwide cohort study. Eur Heart J. 35:2158–2164. 2014. View Article : Google Scholar : PubMed/NCBI
20	Phillips MF and Harper PS: Cardiac disease in myotonic dystrophy. Cardiovasc Res. 33:13–22. 1997. View Article : Google Scholar : PubMed/NCBI
21	Douniol M, Jacquette A, Cohen D, Bodeau N, Rachidi L, Angeard N, Cuisset JM, Vallée L, Eymard B, Plaza M, et al: Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. Dev Med Child Neurol. 54:905–911. 2012. View Article : Google Scholar : PubMed/NCBI