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2 results on '"R. P. Oliveira Sobrinho"'

1. Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients

Author

M. I. De Michelena, Isabella Lopes Monlleó, G. T. N. Besley, R. Giugliani, M.C.V. Garreton, Andréa de Rezende Duarte, Karen Tylee, Ana Carolina Brusius-Facchin, M. Ascurra, Angelina Xavier Acosta, Agnes Cristina Fett-Conte, Sandra Leistner-Segal, Christoph T. Zimmer, Ida Vanessa Doederlein Schwartz, R. P. Oliveira Sobrinho, Márcia Gonçalves Ribeiro, Marshall Italo Barros Fontes, Raquel Boy, Dafne Dain Gandelman Horovitz, and P. Mabe

Subjects
Adult, Genotype-phenotype correlation, Genotyping Techniques, Endocrinology, Diabetes and Metabolism, Iduronate-2-sulfatase, Iduronate Sulfatase, Biology, medicine.disease_cause, Biochemistry, Severity of Illness Index, Mucopolysaccharidosis type II, Exon, Endocrinology, Genetics, medicine, Humans, Molecular Biology, Genotyping, Genetic Association Studies, Mucopolysaccharidosis II, Glycosaminoglycans, Iduronate Sulfatase/genetics, Mutation, purl.org/pe-repo/ocde/ford#3.02.18 [https], Single-strand conformation polymorphism, Hunter syndrome, Sequence Analysis, DNA, Exons, South America, medicine.disease, Molecular biology, Mucopolysaccharidosis II/diagnosis/genetics/pathology, Female, purl.org/pe-repo/ocde/ford#1.06.07 [https]
Abstract

In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility of some insights on the genotype-phenotype correlation The strategy used for genotyping involved the identification of the previously reported inversion/disruption of the IDS gene by PCR and screening for other mutations by PCR/SSCP. The exons with altered mobility on SSCP were sequenced, as well as all the exons of patients with no SSCP alteration. By using this strategy, we were able to find the pathogenic mutation in all patients. Alterations such as inversion/disruption and partial/total deletions of the IDS gene were found in 20/103 (19%) patients. Small insertions/deletions/indels (

Published
2014

2. Clinical and biochemical studies in mucopolysaccharidosis type II carriers

Author

João Gustavo Cerqueira Mota, R. P. Oliveira Sobrinho, R. Giugliani, Ida Vanessa Doederlein Schwartz, C. G. G. Porciuncula, A. C. Paula, Denise Y. J. Norato, Andréa de Rezende Duarte, Luciane Cauduro Lima, Agnes Cristina Fett-Conte, G. Breda, E. Lipinski-Figueiredo, Patrícia Santana Correia, Louise Lapagesse de Camargo Pinto, Raquel Boy, Sandra Leistner-Segal, Angelina Xavier Acosta, Maira Graeff Burin, Chong Ae Kim, Dafne Dain Gandelman Horovitz, and Márcia Gonçalves Ribeiro

Subjects
Adult, medicine.medical_specialty, Heterozygote, Adolescent, Urinary system, Genetic counseling, DNA Mutational Analysis, Physiology, Physical examination, Urine, Young Adult, Internal medicine, Genetics, medicine, Humans, Medical history, Family, Young adult, Mucopolysaccharidosis type II, Physical Examination, Genetics (clinical), Glycoproteins, Glycosaminoglycans, Mucopolysaccharidosis II, Family Health, medicine.diagnostic_test, business.industry, Case-control study, Middle Aged, Pedigree, Endocrinology, Case-Control Studies, Female, business, Biomarkers
Abstract

The aim of the study was to characterize clinically and biochemically mucopolysaccharidosis type II (MPS II) heterozygotes. Fifty-two women at risk to be a carrier, with a mean age of 34.1 years (range 16–57 years), were evaluated through pedigree analysis, medical history, physical examination, measurement of iduronate sulfatase (IDS) activities in plasma and in leukocytes, quantification of glycosaminoglycans (GAGs) in urine, and analysis of the IDS gene. Eligibility criteria for the study also included being 16 years of age or older and being enrolled in a genetic counselling programme. The pedigree and DNA analyses allowed the identification of 40/52 carriers and 12/52 non-carriers. All women evaluated were clinically healthy, and their levels of urinary GAGs were within normal limits. Median plasma and leukocyte IDS activities found among carriers were significantly lower than the values found for non-carriers; there was, however, an overlap between carriers’ and non-carriers’ values. Our data suggests that MPS II carriers show lower plasma and leukocyte IDS activities but that this reduction is generally associated neither with changes in levels of urinary GAGs nor with the occurrence of clinical manifestations.

Published
2008

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