An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS Network

Cho, Sung Yoon; Sohn, Young Bae; Jin, Dong‐Kyu

doi:10.5582/irdr.2014.01013

Cited by 32 publications

(42 citation statements)

References 29 publications

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“…The birth prevalence of MPS I in the state of RS was quite similar to those reported in Northern Ireland (Nelson, ) and in Northern Portugal (Pinto et al, ). The Brazilian estimate, although lower, still exceeds the rates found in most countries, particularly Asian ones such as Japan, South Korea, and Taiwan, and represents double the rate estimated for Colombia (Cho et al, ; Gómez et al, ; Khan et al, ; Lin et al, ).…”

Section: Discussionmentioning

confidence: 86%

Estimated birth prevalence of mucopolysaccharidoses in Brazil

Federhen

Pasqualim

Freitas

et al. 2020

American J of Med Genetics Pt A

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Several studies have been published on the frequency of the mucopolysaccharidoses (MPS) in different countries. The objective of the present study was to estimate the birth prevalence (BP) of MPS in Brazil. MPS diagnosis registered at MPS‐Brazil Network and in Instituto Vidas Raras were reviewed. BP was estimated by (a) the number of registered patients born between 1994 and 2015 was divided by the number of live births (LBs), and (b) a sample of 1,000 healthy individuals was tested for the most frequent variant in IDUA gene in MPS I (p.Trp402Ter) to estimate the frequency of heterozygosity and homozygosity. (a) The BP based on total number of LBs was (cases per 100,000 LBs): MPS overall: 1.25; MPS I: 0.24; MPS II: 0.37; MPS III: 0.21; MPS IV: 0.14; MPS VI: 0.28; MPS VII: 0.02. (b) The overall frequency of p.Trp402Ter was 0.002. Considering the frequency of heterozygotes for the p.Trp402Ter IDUA variant in the RS state, the frequency of this variant among MPS I patients and the relative frequency of the different MPSs, we estimated the birth prevalence of MPS in total and of each MPS type, as follows: MPS overall: 4.62; MPS I: 0.95; MPS II: 1.32; MPS III: 0.56; MPS IV: 0.57; MPS VI: 1.02; MPS VII: 0.05. This study provided original data about BP and relative frequency of the MPS types, in Brazil, based on the frequency of the commonest IDUA pathogenic variant and in the records of two large patient databases.

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Section: Discussionmentioning

confidence: 86%

Estimated birth prevalence of mucopolysaccharidoses in Brazil

Federhen

Pasqualim

Freitas

et al. 2020

American J of Med Genetics Pt A

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“…In general, East Asian countries including China, Japan, and Taiwan have a high incidence of MPS II that could be due to common mutation R468 in IDS gene [24, 49–51]. In contrast, in South Korea, IDS-IDS2 recombination mutations were most frequently found in Korean patients with a severe phenotype [23]. Another common mutation included p.G374G splicing mutation causing an attenuated phenotype [23].…”

Section: Discussionmentioning

confidence: 99%

“…In South Korea, 147 MPS patients were identified between 1994 and 2013 [23]. The combined birth prevalence of all MPS was calculated to be 1.35 per 100,000 live births.…”

Section: Birth Prevalence Of Mpsmentioning

confidence: 99%

Epidemiology of mucopolysaccharidoses

Khan

Peracha

Ballhausen³

et al. 2017

Molecular Genetics and Metabolism

318

239

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The aim of this study was to obtain data about the epidemiology of the different types of mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births. The highest birth prevalence was 0.84 for MPS II, accounting for 55% of all MPS. MPS I, III, and IV accounted for 15, 16, and 10%, respectively. MPS VI and VII were more rare and accounted for 1.7 and 1.3%, respectively. A retrospective epidemiological data collection was performed in Switzerland between 1975 and 2008 (34 years), and 41 living MPS patients were identified. The combined birth prevalence was 1.56 per 100,000 live births. The highest birth prevalence was 0.46 for MPS II, accounting for 29% of all MPS. MPS I, III, and IV accounted for 12, 24, and 24%, respectively. As seen in the Japanese population, MPS VI and VII were more rare and accounted for 7.3 and 2.4%, respectively. The high birth prevalence of MPS II in Japan was comparable to that seen in other East Asian countries where this MPS accounted for approximately 50% of all forms of MPS. Birth prevalence was also similar in some European countries (Germany, Northern Ireland, Portugal and the Netherlands) although the prevalence of other forms of MPS is also reported to be higher in these countries. Birth prevalence of MPS II in Switzerland and other European countries is comparatively lower. The birth prevalence of MPS III and IV in Switzerland is higher than in Japan but comparable to that in most other European countries. Moreover, the birth prevalence of MPS VI and VII was very low in both Switzerland and Japan. Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of MPS, as seen for other rare genetic diseases. Methods for identification of MPS patients are not uniform across all countries, and consequently, if patients are not identified, recorded prevalence rates will be aberrantly low.

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“…In South Korea, a total of 147 cases of MPS were reported between 1994 and 2013. MPS II was the most prevalent type of MPS (54.6%), followed by MPS III (18.4%), MPS I (15.3%), MPS IV (9.5%), and MPS VI (1.4%) (11). A study in Japan from 2003 to 2009 indicated that MPS II accounted for 58.1% of cases, while MPS I accounted for 16.2%, MPS III accounted for 11.1%, MPS IV accounted for 11.7%, and MPS VI accounted for 2.9% (12).…”

Section: 1% Of All Genetic Diseasesmentioning

confidence: 99%