Birth prevalence was also similar in some European countries (Germany, Northern Ireland, Portugal and the Netherlands) although the prevalence of other forms of MPS was also reported to be higher in these countries. 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. As seen in the Japanese population, MPS VI and VII were more rare and accounted for 7.3% and 2.4%, respectively. MPS I, III, and IV accounted for 12%, 24%, and 24%, respectively. The highest birth prevalence was 0.46 for MPS II, accounting for 29% of all MPS. The combined birth prevalence was 1.56 per 100,000 live births. A retrospective epidemiologic data collection was performed in Switzerland between 19 (34 years), and 41 living MPS patients were identified. MPS VI and VII ( 253220) were more rare and accounted for 1.7% and 1.3%, respectively. The highest birth prevalence was 0.84 for MPS II ( 309900), accounting for 55% of all MPS. The combined birth prevalence was 1.53 per 100,000 live births. Data for Japan was collected between 19, and 467 cases with MPS were identified. (2017) analyzed the epidemiology of the mucopolysaccharidoses in Japan and Switzerland and compared them to similar data from other countries. (2003) obtained an incidence rate of MPS VI in western Australia for the period 1969 to 1996 of approximately 1 in 320,000 live births. Using multiple ascertainment sources, Nelson et al. The authors emphasized the importance of submitting variants to public databases. Analysis of the genotype-phenotype correlation based on homozygotes was poorly informative for most variants, although some variants did appear to be associated with a more rapidly progressive phenotype. Pathogenic variants in ARSB did not appear to be concentrated in any particular region of the protein. Of the identified patients, 54.8% were homozygous for pathogenic ARSB variants, 35.6% were heterozygous, 9.2% had only one allele reported, and 0.4% had both alleles unidentified. Of the unique alleles, 31.7% appeared only once, with an additional 28.5% appearing twice. Most (59.5%) unique variants were missense, followed by small deletions (13.5%), nonsense (12.0%), splice site or intronic (5.0%), small duplications (3.0%), and large deletions (3.0%). They also identified 3 benign variants that had previously been incorrectly reported as pathogenic. (2018) reviewed all variants in the ARSB gene in patients with MPS VI reported in the literature and in public databases and identified 908 alleles with 198 distinct nonpolymorphic variants from 478 patients. The most common mutant alleles were splice site mutations, 611542.0042.0012, which accounted for 21.9% and 12.5% of mutant alleles, respectively. (2007) identified 19 different mutations, including 9 novel mutations, in the ARSB gene. ![]() Each defect was confirmed by restriction enzyme or amplification refractory mutation system (ARMS) analysis.Īmong 12 Spanish and 4 Argentinian patients with MPS VI, Garrido et al. (1999) found 5 novel mutations of the ARSB gene in Italian patients with MPS VI. No common mutations had been described, making screening of the general population difficult. Missense mutations represented the largest group, with 31 identified. Litjens and Hopwood (2001) stated that a total of 45 clinically relevant mutations had been identified in the ARSB gene in patients with mucopolysaccharidosis type VI. For each patient, the combined biochemical phenotypes of the 2 mutant sulfatase alleles demonstrated a good correspondence with the observed clinical phenotype. All patients were compound heterozygotes and showed variable phenotypes ranging from mild to severe. In 9 patients with MPS VI, Litjens et al. (1992) identified homozygous or compound heterozygous mutations in the ARSB gene ( 611532.0002- 611542.0004). (1991) identified a homozygous mutation in the ARSB gene ( 611542.0001). In a patient with mucopolysaccharidosis type VI, born of consanguineous parents, Wicker et al.
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