Morquio a syndrome-associated mutations: A review of alterations in the GALNS gene and a new locus-specific database

Human Mutation

Volumn 35, Issue 11, 2014, Pages 1271-1279

  Morrone, Amelia ^a,b   Caciotti, Anna ^a   Atwood, Robert ^c   Davidson, Kathryn ^d   Du, Chaoyi ^c   Francis Lyon, Patricia ^e   Harmatz, Paul ^f   Mealiffe, Matthew ^d   Mooney, Sean ^c   Oron, Tal Ronnen ^c   Ryles, April ^e   Zawadzki, Karl A ^g   Miller, Nicole ^d  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c BUCK INSTITUTE FOR RESEARCH ON AGING   (United States)

^d BIOMARIN PHARMACEUTICAL INC   (United States)

^e UNIVERSITY OF SAN FRANCISCO   (United States)

^f CHILDREN S HOSPITAL OAKLAND   (United States)

^g Health Interactions   (United States)

Author keywords

GALNS; Lysosomal storage disorder; Morquio A; MPS IVA; Mucopolysaccharidosis type IVA

Indexed keywords

N ACETYLGALACTOSAMINE 6 SULFATASE; BIOLOGICAL MARKER; GALNS PROTEIN, HUMAN; N ACETYLGALACTOSAMINE 4 SULFATASE;

ALLELE; ARTICLE; DATA BASE; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; GEOGRAPHY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; MORQUIO A SYNDROME; MORQUIO SYNDROME; NUCLEOTIDE SEQUENCE; ANIMAL; DISEASE MODEL; GENETICS; GENOTYPE; META ANALYSIS; MUCOPOLYSACCHARIDOSIS IV; MUTATION; NEWBORN; NEWBORN SCREENING; NUCLEIC ACID DATABASE; PHENOTYPE; QUANTITATIVE TRAIT LOCUS;

IVA;

ALLELES; ANIMALS; BIOLOGICAL MARKERS; CHONDROITINSULFATASES; DATABASES, NUCLEIC ACID; DISEASE MODELS, ANIMAL; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; GEOGRAPHY; HUMANS; INFANT, NEWBORN; MUCOPOLYSACCHARIDOSIS IV; MUTATION; NEONATAL SCREENING; PHENOTYPE; QUANTITATIVE TRAIT LOCI;

EID: 84918590598     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22635     Document Type: Article

References (47)

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. 2010. A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.
2. Caciotti A, Bardelli T, Cunningham J, D'Azzo A, Zammarchi E, Morrone A. 2003. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. Hum Genet 113:44-50.
3. Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A. 2005. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Hum Mutat 25:285-292.
4. Catarzi S, Giunti L, Papadia F, Gabrielli O, Guerrini R, Donati MA, Genuardi M, Morrone A. 2012. Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16. Mol Genet Metab 105:438-442.
5. Cimaz R, Coppa GV, Kone-Paut I, Link B, Pastores GM, Elorduy MR, Spencer C, Thorne C, Wulffraat N, Manger B. 2009. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J 7:7-18.
6. den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
7. Dung VC, Tomatsu S, Montaño AM, Gottesman G, Bober MB, Mackenzie W, Maeda M, Mitchell GA, Suzuki Y, Orii T. 2013. Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels. Mol Genet Metab 110:129-138.
8. Forbes SA, Bindal N, Bamford S, Cole C, Kok CY, Beare D, Jia M, Shepherd R, Leung K, Menzies A, Teague JW, Campbell PJ, Stratton MR, Futreal PA. 2011. COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res 39:D945-D950.
9. Gieselmann V, Fluharty AL, Tonnesen T, Von Figura K. 1991. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am J Hum Genet 49:407-413.
10. Harmatz P, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, Guffon N, Burton BK, Hendriksz CJ, Mitchell J, Martins A, Jones S, Guelbert N, Vellodi A, Hollak C, Slasor P, Decker C. 2013. The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab 109:54-61.
11. Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S. 2013a. Review of clinical presentation and diagnosis of Mucopolysaccharidosis IVA. Mol Genet Metab 110:54-64.
12. Hendriksz C, Burton BK, Fleming T, Giugliani R, Harmatz P, Hughes D, Jones S, Lin S, Mengel KE, Scarpa M, Valayannopoulos V. 2013b. A multi-national, randomized, double-blind, placebo-controlled study to evaluate the efficacy and safety of BMN 110 treatment for mucopolysaccharidosis IVA (Morquio syndrome type A). Mol Genet Metab 108:S48.
13. Kato Z, Fukuda S, Tomatsu S, Vega H, Yasunaga T, Yamagishi A, Yamada N, Valencia A, Barrera LA, Sukegawa K, Orii T, Kondo N. 1997. A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in Mucopolysaccharidosis IVA. Hum Genet 101:97-101.
14. Lachman RS, Burton BK, Clarke LA, Hoffinger S, Ikegawa S, Jin DK, Kano H, Kim OH, Lampe C, Mendelsohn NJ, Shediac R, Tanpaiboon P, White KK. 2014. Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-?Lamy syndrome): under-recognized and challenging to diagnose. Skeletal Radiol 43:359-369.
15. Landsverk ML, Douglas GV, Tang S, Zhang VW, Wang GL, Wang J, Wong LJ. 2012. Diagnostic approaches to apparent homozygosity. Genet Med 14:877-882.
16. Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, Mooney SD, Radivojac P. 2009. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 25:2744-2750.
17. Longdon K, Pennock CA. 1979. Abnormal keratan sulphate excretion. Ann Clin Biochem 16:152-154.
18. Martell LA, Cunico RL, Ohh J, Fulkerson W, Furneaux R, Foehr ED. 2011. Validation of an LC-MS/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio A syndrome. Bioanalysis 3:1855-1866.
19. Meyer LR, Zweig AS, Hinrichs AS, Karolchik D, Kuhn RM, Wong M, Sloan CA, Rosenbloom KR, Roe G, Rhead B, Raney BJ, Pohl A, Malladi VS, Li CH, Lee BT, Learned K, Kirkup V, Hsu F, Heitner S, Harte RA, Haeussler M, Guruvadoo L, Goldman M, Giardine BM, Fujita PA, Dreszer TR, Diekhans M, Cline MS, Clawson H, Barber GP, Haussler D, Kent WJ. 2013. The UCSC Genome Browser database: extensions and updates 2013. Nucleic Acids Res 41:D64-D69.
20. Montaño AM, Tomatsu S, Brusius A, Smith M, Orii T. 2008. Growth charts for patients affected with Morquio A disease. Am J Med Genet A 146A:1286-1295.
21. Montaño AM, Tomatsu S, Gottesman GS, Smith M, Orii T. 2007. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis 30:165-174.
22. Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson D, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N. 2014. Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. Mol Genet Metab 112:160-170.
23. Nakashima Y, Tomatsu S, Hori T, Fukuda S, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T. 1994. Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region. Genomics 20:99-104.
24. Nelson J. 1997. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 101:355-358.
25. Nelson J, Crowhurst J, Carey B, Greed L. 2003. Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet A 123A:310-313.
26. Northover H, Cowie RA, Wraith JE. 1996. Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review. J Inherit Metab Dis 19:357-365.
27. Rivera-Colón Y, Schutsky EK, Kita AZ, Garman SC. 2012. The structure of human GALNS reveals the molecular basis for Mucopolysaccharidosis IV A. J Mol Biol 423:736-751.
28. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. 2001. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 29:308-311.
29. Spacil Z, Tatipaka H, Barcenas M, Scott CR, Turecek F, Gelb MH. 2013. High-throughput assay of 9 lysosomal enzymes for newborn screening. Clin Chem 59:502-511.
30. Thomas GH. 1994. "Pseudodeficiencies" of lysosomal hydrolases. Am J Hum Genet 54:934-940.
31. Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y. 1991. Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. Biochem Biophys Res Commun 181:677-683.
32. Tomatsu S, Montaño AM, Dung VC, Ohashi A, Oikawa H, Oguma T, Orii T, Barrera L, Sly WS. 2010. Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. Mol Ther 18:1094-1102.
33. Tomatsu S, Montaño AM, Ohashi A, Gutierrez MA, Oikawa H, Oguma T, Dung VC, Nishioka T, Orii T, Sly WS. 2008. Enzyme replacement therapy in a murine model of Morquio A syndrome. Hum Mol Genet 17:815-824.
34. Tomatsu S, Montaño AM, Oikawa H, Smith M, Barrera L, Chinen Y, Thacker MM, Mackenzie WG, Suzuki Y, Orii T. 2011. Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol 12:931-945.
35. Tomatsu S, Nishioka T, Montaño AM, Gutierrez MA, Pena OS, Orii KO, Sly WS, Yamaguchi S, Orii T, Paschke E, Kircher SG, Noguchi A. 2004. Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. J Med Genet 41:e98-e98.
36. Tomatsu S, Orii KO, Vogler C, Nakayama J, Levy B, Grubb JH, Gutierrez MA, Shim S, Yamaguchi S, Nishioka T, Montaño AM, Noguchi A, Orii T, Kondo N, Sly WS. 2003. Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. Hum Mol Genet 12:3349-3358.
37. Tomatsu S, Vogler C, Montaño AM, Gutierrez M, Oikawa H, Dung VC, Orii T, Noguchi A, Sly WS. 2007. Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. Mol Genet Metab 91:251-258.
38. Tomatsu S, Gutierrez M, Nishioka T, Yamada M, Yamada M, Tosaka Y, Grubb JH, Montaño AM, Vieira MB, Trandafirescu GG, Peña OM, Yamaguchi S, Orii KO, Orii T, Noguchi A, Laybauer L. 2005a. Development of MPS IVA mouse (Galnstm(hC79S·mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. Hum Mol Genet 14:3321-3335.
39. Tomatsu S, Montaño AM, Nishioka T, Gutierrez MA, Peña OM, Tranda firescu GG, Lopez P, Yamaguchi S, Noguchi A, Orii T. 2005b. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum Mutat 26:500-512.
40. Tylee KL, Morrone A, Al-Sayed M, Brusius-Facchin AC, Church HJ, Coll MJ, Miller N. 2013. Mucopolysaccharidosis IVa (Morquio A) molecular analysis: a review of the advantages and limitations of molecular testing of GALNS in the diagnosis of Morquio A. Hum Mutat 36:S259.
41. UniProtConsortium. 2014. Activities at the Universal Protein Resource (UniProt). Nucleic Acids Res 42:D191-D198.
42. Valayannopoulos V, Wijburg FA. 2011. Therapy for the mucopolysaccharidoses. Rheumatology (Oxford) 50 Suppl 5:v49-v59.
43. Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ. 2013. Diagnosing mucopolysaccharidosis IVA J Inherit Metab Dis 36:293-307.
44. Yamada N, Fukuda S, Tomatsu S, Muller V, Hopwood JJ, Nelson J, Kato Z, Yamagishi A, Sukegawa K, Kondo N, Orii T. 1998. Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. Hum Mutat 11:202-208.
45. Yasuda E, Fushimi K, Suzuki Y, Shimizu K, Takami T, Zustin J, Patel P, Ruhnke K, Shimada T, Boyce B, Kokas T, Barone C, Theroux M, Mackenzie W, Nagel B, Ryerse JS, Orii KE, Iida H, Orii T, Tomatsu S. 2013. Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder. Mol Genet Metab 109:301-311.
46. Zanetti A, Ferraresi E, Picci L, Filocamo M, Parini R, Rosano C, Tomanin R, Scarpa M. 2009. Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism. Eur J Hum Genet 17:1160-1164.
47. Zlotogora J, Bach G. 1983. Deficiency of lysosomal hydrolases in apparently healthy individuals. Am J Med Genet 14:73-80.