Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations

Journal of Inherited Metabolic Disease

Volumn 36, Issue 2, 2013, Pages 179-187

  Pollard, Laura M ^a   Jones, Julie R ^a   Wood, Tim C ^a  

^a GREENWOOD GENETIC CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA N ACETYLGLUCOSAMINIDASE; IDURONATE 2 SULFATASE; LEVO IDURONIDASE; N ACETYLGALACTOSAMINE 6 SULFATASE; ACETYLGLUCOSAMINIDASE; ALPHA-N-ACETYL-D-GLUCOSAMINIDASE; ARYLSULFATASE B, HUMAN; GALNS PROTEIN, HUMAN; HYDROLASE; N ACETYLGALACTOSAMINE 4 SULFATASE; N-SULFOGLUCOSAMINE SULFOHYDROLASE;

ARSB GENE; ARTICLE; CONTROLLED STUDY; FAMILY HISTORY; GALNS GENE; GENE; GENE DELETION; GENE FREQUENCY; GENETIC HETEROGENEITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; IDS GENE; IDUA GENE; MAJOR CLINICAL STUDY; MAROTEAUX LAMY SYNDROME; MORQUIO SYNDROME; MUCOPOLYSACCHARIDOSIS; NAGLU GENE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; SANFILIPPO SYNDROME; SGSH GENE; COHORT ANALYSIS; ENZYMOLOGY; EXON; GENETICS; MUTATION;

ACETYLGLUCOSAMINIDASE; CHONDROITINSULFATASES; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXONS; GENE FREQUENCY; HUMANS; HYDROLASES; IDURONATE SULFATASE; IDURONIDASE; MUCOPOLYSACCHARIDOSES; MUTATION; N-ACETYLGALACTOSAMINE-4-SULFATASE;

EID: 84879694616     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9533-7     Document Type: Article

References (41)

1. Adzhubei IA, Schmidt S, Peshkin L et al (2012) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248-249
2. Andria G, Di Natale P, Del Guidice E, Strisciuglio P, Murino P (1979) Sanfilippo B syndrome (MPS IIIB): attenuated and severe forms within same sibship. Clin Genet 15:500-504
3. Auray-Blais C, Bherer P, Gagnon R et al (2011) Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI. Mol Genet Metab 102:49-56
4. Baum H, Dodgson KS, Spencer B (1959) The assay of arylsulfatases A and B in human urine. Clin Chim Acta 4(3):453-455
5. Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG (2001) Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet 109(5):503-511
6. Blanchard S, Sadilek M, Scott CR, Turecek F, Gelb MH (2008) Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. Clin Chem 54(12):2067-2070
7. Bondeson ML, Dahl N, Malmgren H, Kleijer WJ, Tönnesen T, Carlberg BM, Pettersson U (1995) Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet 4(4):615-621
8. Camelier MV, Burin MG, De Mari J, Vieira TA, Marasca G, Giugliani R (2011) Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio syndrome type A) in dried blood samples. Clin Chim Acta 412(19-20):1805-1808
9. de Jong JGN, Wevers RA, Laarakkers C, Poorthuis BJHM (1989) Dimethylmethylene Blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses. Clin Chem 35(7):1472-1477
10. Dembure PP, Roesel RA (1991) Screening for mucopolysaccharidoses by analysis of urinary glycosaminoglycans. In: Hommes FA (ed) Techniques in diagnostic human biochemical genetics: a laboratory manual. Wiley-Liss, New York, pp 77-86
11. Duffey TA, Sadilek M, Scott CR, Turecek F, Gelb MH (2010) Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Anal Chem 82(22):9587-9591
12. Froissart R, Maire I, Bonnet V, Levade T, Bozon D (1997) Germline and somatic mosaicism in a female carrier of Hunter disease. J Med Genet 34(2):137-140
13. Froissart R, Da Silva IM, Maire I (2007) Mucopolysaccharidosis type II: an update on mutation spectrum. Acta Paediatr Suppl 96(455):71-77
14. Gottwald I, Hughes J, Stewart F, Tylee K, Church H, Jones SA (2011) Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y201C mutation in the ARSB gene. Mol Genet Metab 103(3):300-302
15. Hopwood JJ, Harrison JR (1982) High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses. Anal Biochem 119:120-127
16. Imundo L, Leduc CA, Guha S et al (2011) A complete deficiency of hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis. J Inherit Metab Dis 34(5):1013-1022
17. Karageorgos L, Brooks DA, Pollard A et al (2007) Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat 28(9):897-903
18. Karpova EA, YaV V, Keulemans JL et al (1996) A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA). J Inherit Metab Dis 19(3):278-285
19. Kowalewski B, Lamanna WC, Lawrence R et al (2012) Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. Proc Natl Acad Sci USA 109(26):10310-10315
20. Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protocols 4(8):1073-1082
21. Matte U, Yogalingam G, Brooks D et al (2003) Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. Mol Genet Metabol 78(1):37-43
22. Meyer A, Kossow K, Gal A et al (2008) The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). Hum Mutat. Mutation in Brief #1004
23. Montaño AM, Sukegawa K, Kato Z et al (2007) Effect of 'attenuated' mutations in mucopolysaccharidoss IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase. J Inherit Metab Dis 30:758-767
24. Neufeld EF, Muenzer J (1995) The mucopolysaccharidoses. In: Beaudet AL, Sly WS, Scriver C (eds) The metabolic basis of inherited disease. McGraw Hill, New York, pp 2465-2493
25. Nielsen TC, Rozek T, Hopwood JJ, Fuller M (2010) Determination of urinary oligosaccharides by high-performance liquid chromatography/electrospray ionization-tandem mass spectrometry: application to hunter syndrome. Anal Biochem 402(2):113-120
26. Schmidtchen A, Greenberg D, Zhao HG et al (1998) NAGLU mutations underlying Sanfilippo syndrome type B. Am J Hum Genet 62:64-69
27. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30(12):e57
28. Sukegawa K, Nakamura H, Kato Z et al (2000) Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. Hum Mol Genet 9(9):1283-1290
29. Terlato NJ, Cox GF (2003) Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. Genet Med 5(4):286-294
30. Tolun AA, Graham C, Shi Q et al (2012) A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots. Mol Genet Metab 105(3):519-521
31. Tomatsu S, Montaño AM, Nishioka T et al (2005) Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum Mutat 26(6):500-512
32. Tomatsu S, Montaño AM, Oguma T et al (2010) Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry. Mol Genet Metab 99(2):124-131
33. Van Diggelen OP (2004) Laboratory protocol for enzyme analysis for Sanfilippo B disease (MPS IIIB). Written procedure provided with substrate purchased from Moscerdam substrates
34. Van Diggelen OP, Zhao H, Kleijer WJ et al (1990) A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IVA). Clin Chim Acta 187(2):131-139
35. Voznyi YV, Keulemans JL, van Diggelen OP (2001) A fluorometric enzyme assay for the diagnosis of MPS II (Hunter disease). J Inherit Metab Dis 24(6):675-680
36. Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ (1997) Novel mutations in Sanfilippo A syndrome: implications for enzyme function. Hum Mol Genet 6:1573-1579
37. Wenger DA, Williams C (1991) Screening for lysosomal disorders. In: Hommes FA (ed) Techniques in diagnostic human biochemical genetics: a laboratory manual. Wiley-Liss, New York, pp 587-617
38. Whitley CB, Ridnour MD, Draper KA, Dutton CM, Neglia JP (1989) Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion. Clin Chem 35:374-379
39. Wilson PJ, Morris CP, Anson DS, Occhiodoro T, Bielicki J, Clements PR, Hopwood JJ (1990) Hunter syndrome: Isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci 87:8531-8535
40. Wolfe BJ, Blanchard S, Sadilek M, Scott CR, Turecek F, Gelb MH (2011) Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter syndrome). Anal Chem 83(3):1152-1156
41. Yogalingam G, Hopwood JJ (2001) Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: diagnostic, clinical and biological implications. Hum Mutat 18:264-281