Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)

Bibliography

• Baehner F , Schmiedeskamp C , Krummenauer F , et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 2005;28(6):1011-17
   PubMed Web of Science ®Google Scholar
• Wraith JE , Cooper A , Thornley M , et al. The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II–Hunter syndrome). Hum Genet 1991;87(2):205-6
   PubMed Web of Science ®Google Scholar
• Cudry S , Tigaud I , Froissart R , et al. MPS II in females: molecular basis of two different cases. J Med Genet 2000;37(10):E29
   PubMedGoogle Scholar
• Tuschl K , Gal A , Paschke E , et al. Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol 2005;32(4):270-2
   PubMed Web of Science ®Google Scholar
• Neufeld EF , Muenzer J . The mucopolysaccharidoses. In: Scriver CR SW , Childs B , Beaudet AL , Valle D , Kinzler KW , Vogelstein B , editor. The metabolic and molecular basis of inherited disease. 8th edition. McGraw-Hill, Medical Publishing Division, New York: 2001;3. p. 3421-52
   Google Scholar
• Berry HK . Screening for mucopolysaccharide disorders with the Berry spot test. Clin Biochem 1987;20(5):365-71
   PubMed Web of Science ®Google Scholar
• de Jong JG , Wevers RA , Liebrand-van Sambeek R . Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. Clin Chem 1992;38(6):803-7
   PubMed Web of Science ®Google Scholar
• Whitley CB , Draper KA , Dutton CM , et al. Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix. Clin Chem 1989;35(10):2074-81
   PubMed Web of Science ®Google Scholar
• Civallero G , Bender F , Gomes A , et al. Reliable detection of mucopolysacchariduria in dried-urine filter paper samples. Clin Chim Acta 2013;415:334-6
   PubMed Web of Science ®Google Scholar
• Dembure PP , Drumheller JE , Barr SM , et al. Selective urinary screening for mucopolysaccharidoses. Clin Biochem 1990;23(1):91-6
   PubMed Web of Science ®Google Scholar
• Hopwood JJ , Harrison JR . High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses. Anal Biochem 1982;119(1):120-7
   PubMed Web of Science ®Google Scholar
• Tomatsu S , Shimada T , Mason RW , et al. Assay for Glycosaminoglycans by Tandem Mass Spectrometry and its Applications. J Anal Bioanal Tech 2014;2014(Suppl 2):006
   Google Scholar
• Auray-Blais C , Lavoie P , Zhang H , et al. An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper. Clin Chim Acta 2012;413(7-8):771-8
   PubMed Web of Science ®Google Scholar
• Muenzer J , Beck M , Giugliani R , et al. Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey. Genet Med 2011;13(2):102-9
   PubMed Web of Science ®Google Scholar
• Voznyi YV , Keulemans JL , van Diggelen OP . A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease). J Inherit Metab Dis 2001;24(6):675-80
   PubMed Web of Science ®Google Scholar
• Chamoles NA , Blanco MB , Gaggioli D , et al. Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper. Clin Chem 2001;47(12):2098-102
   PubMed Web of Science ®Google Scholar
• Civallero G , Michelin K , de Mari J , et al. Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases. Clin Chim Acta 2006;372(1-2):98-102
   PubMed Web of Science ®Google Scholar
• Camelier MV , Burin MG , De Mari J , et al. Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples. Clin Chim Acta 2011;412(19-20):1805-8
   PubMed Web of Science ®Google Scholar
• Tolun AA , Graham C , Shi Q , et al. A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots. Mol Genet Metab 2012;105(3):519-21
   PubMed Web of Science ®Google Scholar
• Wilson PJ , Morris CP , Anson DS , et al. Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci USA 1990;87(21):8531-5
   PubMed Web of Science ®Google Scholar
• Froissart R , Da Silva IM , Maire I . Mucopolysaccharidosis type II: an update on mutation spectrum. Acta Paediatr Suppl 2007;96(455):71-7
   PubMedGoogle Scholar
• Haldane J . The rate of spontaneous mutation of a human gene. J Genet 1935;31(3):317-26
   Google Scholar
• Human Gene Mutation Database. Available from: www.hgmd.cf.ac.uk [Last accessed Novembro 2014]
   Google Scholar
• Brusius-Facchin AC , Schwartz IV , Zimmer C , et al. Mucopolysaccharidosis type II: identification of 30 novel mutations among latin american patients. Mol Genet Metab 2014;111(2):133-8
   PubMed Web of Science ®Google Scholar
• Hopwood JJ , Bunge S , Morris CP , et al. Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum Mutat 1993;2(6):435-42
   PubMed Web of Science ®Google Scholar
• Brusius-Facchin AC , Abrahao L , Schwartz IV , et al. Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence. Gene 2013;526(2):150-4
   PubMed Web of Science ®Google Scholar
• Rathmann M , Bunge S , Beck M , et al. Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene. Am J Hum Genet 1996;59(6):1202-9
   PubMed Web of Science ®Google Scholar
• Gort L , Chabas A , Coll MJ . Hunter disease in the Spanish population: molecular analysis in 31 families. J Inherit Metab Dis 1998;21(6):655-61
   PubMed Web of Science ®Google Scholar
• Isogai K , Sukegawa K , Tomatsu S , et al. Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). J Inherit Metab Dis 1998;21(1):60-70
   PubMed Web of Science ®Google Scholar
• Froissart R , Moreira da Silva I , Guffon N , et al. Mucopolysaccharidosis type II–genotype/phenotype aspects. Acta Paediatr Suppl 2002;91(439):82-7
   PubMedGoogle Scholar
• Sukegawa K , Tomatsu S , Fukao T , et al. Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. Hum Mutat 1995;6(2):136-43
   PubMed Web of Science ®Google Scholar
• Froissart R , Maire I , Millat G , et al. Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. Clin Genet 1998;53(5):362-8
   PubMed Web of Science ®Google Scholar
• Timms KM , Huckett LE , Belmont JW , et al. DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression. Hum Mutat 1998;11(2):121-6
   PubMed Web of Science ®Google Scholar
• Cooper DN , Chen JM , Ball EV , et al. Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat 2010;31(6):631-55
   PubMed Web of Science ®Google Scholar
• Selmer KK , Gilfillan GD , Stromme P , et al. A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions. Eur J Hum Genet 2012;20(1):58-63
   PubMed Web of Science ®Google Scholar
• Wei X , Jin F , Ye Y , et al. A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing. Clin Chim Acta 2011;412(23-24):2340-2
   PubMed Web of Science ®Google Scholar
• Pinto LL , Vieira TA , Giugliani R , et al. Expression of the disease on female carriers of x-linked lysosomal disorders: a brief review. Orphanet J Rare Dis 2010;5:14
   PubMed Web of Science ®Google Scholar
• Keulemans JL , Sinigerska I , Garritsen VH , et al. Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay. Prenat Diagn 2002;22(11):1016-21
   PubMed Web of Science ®Google Scholar
• Ruijter GJ , Goudriaan DA , Boer AM , et al. Newborn screening for hunter disease: a small-scale feasibility study. JIMD Rep 2014;14:23-7
   Google Scholar
• Tylki-Szymanska A , Jurecka A , Zuber Z , et al. Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up. Acta Paediatr 2012;101(1):e42-7
   PubMed Web of Science ®Google Scholar
• Altarescu G , Beeri R , Eiges R , et al. Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis. Mol Biol Int 2012;2012:797342
   Google Scholar
• Muenzer J , Wraith JE , Beck M , et al. A Phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006;8(8):465-73
   PubMed Web of Science ®Google Scholar
• Scarpa M , Almassy Z , Beck M , et al. Mucopolysaccharidosis type II: european recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis 2011;6:72
   PubMed Web of Science ®Google Scholar
• Muenzer J , Bodamer O , Burton B , et al. The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. Eur J Pediatr 2012;171(1):181-8
   PubMed Web of Science ®Google Scholar
• Lampe C , Atherton A , Burton BK , et al. Enzyme replacement therapy in mucopolysaccharidosis II patients under 1 year of age. JIMD Rep 2014;14:99-113
   Google Scholar
• Tomanin R , Zanetti A , D Avanzo F , et al. Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years. Orphanet J Rare Dis 2014;9(1):129
   PubMed Web of Science ®Google Scholar
• Alcalde-Martin C , Muro-Tudelilla JM , Cancho-Candela R , et al. First experience of enzyme replacement therapy with idursulfase in spanish patients with hunter syndrome under 5 years of age: case observations from the hunter outcome survey (HOS). Eur J Med Genet 2010;53(6):371-7
   PubMed Web of Science ®Google Scholar
• Lampe C , Bosserhoff AK , Burton BK , et al. Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series. J Inherit Metab Dis 2014;37(5):823-9
   PubMed Web of Science ®Google Scholar
• Burton BK , Whiteman DA . Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the hunter outcome survey (HOS). Mol Genet Metab 2011;103(2):113-20
   PubMed Web of Science ®Google Scholar
• Wraith JE , Beck M , Lane R , et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). Pediatrics 2007;120(1):e37-46
   PubMed Web of Science ®Google Scholar
• Mullen CA , Thompson JN , Richard LA , et al. Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia. Bone Marrow Transplant 2000;25(10):1093-7
   PubMed Web of Science ®Google Scholar
• Guffon N , Bertrand Y , Forest I , et al. Bone marrow transplantation in children with hunter syndrome: outcome after 7 to 17 years. J Pediatr 2009;154(5):733-7
   PubMed Web of Science ®Google Scholar
• Tanaka A , Okuyama T , Suzuki Y , et al. Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan. Mol Genet Metab 2012;107(3):513-20
   PubMed Web of Science ®Google Scholar
• Patel P , Suzuki Y , Tanaka A , et al. Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with hunter syndrome. Mol Genet Metab Rep 2014;1:184-96
   PubMedGoogle Scholar
• Friso A , Tomanin R , Salvalaio M , et al. Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. Br J Pharmacol 2010;159(5):1082-91
   PubMed Web of Science ®Google Scholar
• Malinowska M , Wilkinson FL , Bennett W , et al. Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. Mol Genet Metab 2009;98(3):235-42
   PubMed Web of Science ®Google Scholar
• Malinowska M , Wilkinson FL , Langford-Smith KJ , et al. Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease. PLoS One 2010;5(12):e14192
   PubMed Web of Science ®Google Scholar
• Marucha J , Tylki-Szymanska A , Jakobkiewicz-Banecka J , et al. Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT). Am J Med Genet A 2011;155a(9):2257-62
   PubMed Web of Science ®Google Scholar
• Munoz-Rojas MV , Vieira T , Costa R , et al. Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression. Am J Med Genet A 2008;146a(19):2538-44
   PubMed Web of Science ®Google Scholar
• Munoz-Rojas MV , Horovitz DD , Jardim LB , et al. Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis. Mol Genet Metab 2010;99(4):346-50
   PubMed Web of Science ®Google Scholar
• Boado RJ , Ka-Wai Hui E , Zhiqiang Lu J , et al. Insulin receptor antibody-iduronate 2-sulfatase fusion protein: pharmacokinetics, anti-drug antibody, and safety pharmacology in rhesus monkeys. Biotechnol Bioeng 2014;111(11):2317-25
   PubMed Web of Science ®Google Scholar
• Ponder KP , Haskins ME . Gene therapy for mucopolysaccharidosis. Expert Opin Biol Ther 2007;7(9):1333-45
   PubMed Web of Science ®Google Scholar
• Jung SC , Park ES , Choi EN , et al. Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy. Mol Cells 2010;30(1):13-18
   PubMed Web of Science ®Google Scholar