Identification of a Novel Mutation in the ARSB Gene That Is Frequent Among Brazilian MPSVI Patients

Petry, Marcia Fernanda Gomes; Dieter, Tatiana; Burin, Maira G.; Giugliani, Roberto; Leistner, Sandra

doi:10.1089/109065703322783743

Cited by 20 publications

(14 citation statements)

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“…The 4 deceased Monte Santo patients, 2 males and 2 females, were between 7 and 19 years of age at their death and, prior to death, they had also been shown to be homozygous for the p.H178L mutation ( table 1 ). By comparison, c.1533del23 has been reported to be the most common MPS VI mutation elsewhere in Brazil [22,23] . In addition to the 13 genomically confirmed cases, family members identified another 33 deceased persons with the characteristic MPS VI phenotype who had died at between 1 and 24 years of age ( table 2 ; fig.…”

Section: Resultsmentioning

confidence: 88%

A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity

Costa-Motta¹,

Bender

Acosta³

et al. 2014

Hum Hered

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Mucopolysaccharidosis type VI (MPS VI - Maroteaux-Lamy syndrome) is a globally rare lysosomal storage disease caused by a deficiency of arylsulfatase B. However, in Monte Santo, a poor and isolated rural region in Northeast Brazil with large family sizes and high rates of community endogamy and parental consanguinity (α = 0.00483), 9 living and 4 now deceased individuals in 11 kindreds have been diagnosed with MPS VI, all with the same p.H178L missense founder mutation. A further 33 deceased persons have been identified by family members as exhibiting the disease phenotype. Detailed pedigrees were constructed for the 13 genomically confirmed MPS VI patients, with blood samples collected from 236 unaffected family members to determine the prevalence of the p.H178L mutation. A total of 98 (20.8%) mutant alleles and 374 (79.2%) normal alleles were identified, with 41.5% of the individuals heterozygous for the p.H178L mutation and 58.5% homozygous for the normal allele. A significant number of other family members with a 50 or 25% chance of being heterozygous for the p.H178L mutation were unavailable for testing. The data indicate a compelling case for community-based neonatal screening in conjunction with further initiatives among MPS VI family members to promote genetic education and genetic counselling.

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Section: Resultsmentioning

confidence: 88%

A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity

Costa-Motta¹,

Bender

Acosta³

et al. 2014

Hum Hered

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“…Moreover, Brazil had a higher birth prevalence of MPS VI (0.31) than most European countries but similar to Estonia, Tunisia, and West Australia [28]. There is a common mutation, 1533del23, among Brazilian MPS VI patients found in 23.1% of alleles, which also occurs in Portuguese MPS VI patients [111–116] that could reflect the high incidence of Brazilian MPS VI.…”

Section: Discussionmentioning

confidence: 99%

“…Nonsense mutations and small insertions or deletions comprise the remainder, with seven mutations each. In 2003 and 2005, Petry et al described a common mutation, 1533del23, among Brazilian MPS VI patients found in 6/26 alleles (23.1%), which also occurs in Portuguese MPS VI patients, although the frequency is unknown [111–116]. In 2007, Karageorgos et al reported a cohort of 105 MPS VI patients from 15 countries, but primarily from Australia, Europe, North America, and South America that represented more than 10% of the world’s MPS VI patients [113].…”

Section: Methodsmentioning

confidence: 99%

Epidemiology of mucopolysaccharidoses

Khan

Peracha

Ballhausen³

et al. 2017

Molecular Genetics and Metabolism

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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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“…The panel of mutations detected so far is fairly heterogeneous (Karageorgos et al , 2007), with a low relative frequency of each mutation. Only in Portugal and in Brazil have relatively common mutations been identified (Petry et al , 2003, 2005). A correlation between urinary GAG excretion and the clinical phenotype has now been established (Swiedler et al , 2005), but there is no well-established correlation yet with the genotype of the affected individuals (Litjens et al , 1996).…”

Section: Biochemical and Genetic Aspectsmentioning

confidence: 99%

Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment

et al. 2010

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Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.

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Identification of a Novel Mutation in the ARSB Gene That Is Frequent Among Brazilian MPSVI Patients

Cited by 20 publications

References 9 publications

A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity

A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity

Epidemiology of mucopolysaccharidoses

Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment

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