Myotonic dystrophy type 2 is rare in the Japanese population

Matsuura, Tetsuya; Minami, Narihiro; Arahata, Hajime; Ohno, Kinji; Abe, Kōji; Hayashi, Yukiko; Nishino, Ichizo

doi:10.1038/jhg.2011.152

Cited by 13 publications

(7 citation statements)

References 9 publications

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“…In this study, we report our 14-year experience in DM2 genetic testing as one of the main Italian reference centers for the molecular diagnosis of myotonic dystrophies. The prevalence of DM2 likely varies by population: DM2 is rare in the Japanese population ( Matsuura et al, 2012 ), and in the United States, clinical experience suggests that DM2 is roughly fivefold less common than DM1 ( Thornton, 2014 ; Meola and Cardani, 2015 ). Data about the prevalence of DM2 in Europe are limited except for the German and Finland populations, where it may be like that reported for DM1 ( Suominen et al, 2011 ; Mahyera et al, 2018 ).…”

Section: Discussionmentioning

confidence: 99%

A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

et al. 2021

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Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n in intron 1 of the CNBP gene. The CCTG repeat tract is part of a complex (TG)v(TCTG)w(CCTG)x(NCTG)y(CCTG)z motif generally interrupted in CNBP healthy range alleles. Here we report our 14-year experience of DM2 postnatal genetic testing in a total of 570 individuals. The DM2 locus has been analyzed by a combination of SR-PCR, TP-PCR, LR-PCR, and Sanger sequencing of CNBP alleles. DM2 molecular diagnosis has been confirmed in 187/570 samples analyzed (32.8%) and is mainly associated with the presence of myotonia in patients. This set of CNBP alleles showed unimodal distribution with 25 different alleles ranging from 108 to 168 bp, in accordance with previous studies on European populations. The most frequent CNBP alleles consisted of 138, 134, 140, and 136 bps with an overall locus heterozygosity of 90%. Sequencing of 103 unexpanded CNBP alleles in DM2-positive patients revealed that (CCTG)5(NCTG)3(CCTG)7 and (CCTG)6(NCTG)3(CCTG)7 are the most common interruption motifs. We also characterized five CNBP premutated alleles with (CCTG)n repetitions from n = 36 to n = 53. However, the molecular and clinical consequences in our cohort of samples are not unequivocal. Data that emerged from this study are representative of the Italian population and are useful tools for National and European centers offering DM2 genetic testing and counseling.

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Section: Discussionmentioning

confidence: 99%

A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

et al. 2021

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“…Another study in Rome province, Italy, identified a total of 40 DM2 cases with a population size of 4,039,813, resulting in a prevalence of 0.99 cases per 100,000 [26]. There was a large difference in the reported DM2 prevalence, which may be explained clinically by the diagnosis delay resulting from the late-onset age and atypical symptoms as well as genetically by the diagnosis difficulty due to the high instability and variability of CCTG repeats in CNBP [44, 45]. Due to its prevalence in non-European populations, DM2 is a rare disease, and only a few cases have been reported in Japan [46], India [47], and Afghanistan [48].…”

Section: Discussionmentioning

confidence: 99%

Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis

Liao

Zhang

et al. 2022

Neuroepidemiology

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Introduction: Myotonic dystrophy (DM), the most common muscular dystrophy in adults, is a group of autosomal inherited neuromuscular disorders characterized by progressive muscle weakness, myotonia, and cardiac conduction abnormalities. Due to the different gene mutations, DM has been subclassified into DM type 1 (DM1) and type 2 (DM2). However, the prevalence studies on DM and its subtypes are insufficient. Methods: The PubMed (1966–2022), MEDLINE (1950–2022), Web of Science (1864–2022), and Cochrane Library (2022) databases were searched for original research articles published in English. The quality of the included studies was assessed by a checklist adapted from Strengthening the Reporting of Observational studies in Epidemiology. To derive the pooled epidemiological prevalence estimates, a meta-analysis was performed using the random-effects model. Heterogeneity was assessed using the Cochrane Q statistic and the I2 statistic. Results: A total of 17 studies were included in the systematic review and meta-analysis. Of the 17 studies evaluated, 14 studies were considered medium quality, 2 studies were considered high quality, and 1 study was considered low quality. The global prevalence of DM varied widely from 0.37 to 36.29 cases per 100,000. The pooled estimate of the prevalence of DM was 9.99 cases (95% CI: 5.62–15.53) per 100,000. The pooled estimate of the prevalence of DM1 was 9.27 cases (95% CI: 4.73–15.21) per 100,000, ranging from 0.37 to 36.29 cases per 100,000. The pooled estimate of the prevalence of DM2 was 2.29 cases (95% CI: 0.17–6.53) per 100,000, ranging from 0.00 to 24.00 cases per 100,000. Conclusion: Our study provided accurate estimates of the prevalence of DM. The high heterogeneity and the lack of high-quality studies highlight the need to conduct higher quality studies on orphan diseases.

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“…DM2 is known to be prevalent in Caucasians [13][14][15]. However, it seems to show ethnic differences as a recent Japanese study failed to identify a single DM2 patient with expanded CCTG repeats in the CNBP gene among undiagnosed limb-girdle muscular dystrophy patients or undiagnosed patients with electrical or clinical myotonia [16]. Furthermore, no report on DM2 has ever been issued in South Korea.…”

Section: Discussionmentioning

confidence: 99%

Cancer frequency among the patients with myotonic dystrophy in the South Korean population using the national health insurance database

Park

2021

Journal of the Neurological Sciences

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Myotonic dystrophy type 2 is rare in the Japanese population

Cited by 13 publications

References 9 publications

A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis

Cancer frequency among the patients with myotonic dystrophy in the South Korean population using the national health insurance database

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