Natural history of Sanfilippo syndrome in Spain

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Delgadillo, Verónica ^a   O'Callaghan, Maria Del Mar ^a   Gort, Laura ^b   Coll, Maria Josep ^b   Pineda, Mercedes ^c  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

Coarse features; Language delay; Mucopolysacharidosis; Natural history; Psychomotor delay

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; COGNITIVE DEFECT; DEGENERATIVE DISEASE; EPILEPSY; FACIES; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; HYPERACTIVITY; KYPHOSIS; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; ONSET AGE; PRESCHOOL CHILD; PROGNOSIS; PSYCHOMOTOR DEVELOPMENT; RETROSPECTIVE STUDY; SANFILIPPO SYNDROME; SANFILIPPO SYNDROME TYPE A; SANFILIPPO SYNDROME TYPE B; SANFILIPPO SYNDROME TYPE C; SCHOOL CHILD; SCOLIOSIS; SPAIN; SPEECH DELAY; SYMPTOMATOLOGY; WALKING; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS III; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84889075751     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-189     Document Type: Article

References (45)

1. The mucopolysaccharidoses. Neufeld EF, Muenzer J, The metabolic and molecular basis of inherited disease New York: McGraw-Hill, Scriver CR, Beaudet AL, Sly WS, Valle D, 8 2001 3421 3452
2. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B and C). Van der Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA, Clin Genet 1981 20 2 152 160 6796310
3. Management of mucopolysaccharidosis type III. Cleary MA, Wraith JE, Arch Dis Child 1993 69 3 403 406 10.1136/adc.69.3.403 8215557
4. Sanfilippo syndrome: a mini-review. Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA, J Inherited Metab Dis 2008 31 2 240 252 10.1007/s10545-008-0838-5 18392742
5. Muchopolysaccharidosis type III (Sanfilippo Syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Wijburg FA, Wegrzyn G, Burton BK, Tylki- Szymańska A, Acta Paediatr 2013 102 5 462 470 10.1111/apa.12169 23336697
6. Cognitive development in patients with mucopolysaccharidoses type III (Sanfilippo syndrome). Valstar MJ, Marchal JP, Grootenhuis M, Colland V, Wijburg FA, Orphanet J Rare Dis. 2011 6 43 10.1186/1750-1172-6-43 21689409
7. Muchopolyssacharidosis type B may predominantly present with an attenuated clinical phenotype. Valstar MJ, Bruggenwrith HT, Olmer R, Wevers RA, Verheijen FW, Poorthuis BJ, et al. J Inherit Metab Dis 2010 33 6 759 767 10.1007/s10545-010-9199-y 20852935
8. Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioural problems? Moog U, van Mierlo I, van Schrojenstein Lantman- de Valk HM, Spaapen L, Maaskant MA, Curfs LM, Am J Med Genet C Semin Med Genet 2007 145 C 3 293 301
9. Muchopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Valstar MJ, Neijs S, Bruggenwrith HT, Olmer R, Ruijter GJ, Wevers RA, et al. Ann Neurol 2010 68 6 876 887 10.1002/ana.22092 21061399
10. Scoring evaluation of the natural course of mucopolysaccharidoses type A (Sanfilippo syndrome type A). Meyer A, Kossow K, Gal AC, Mühlhausen Ullrich K, Braulke T, Muschol N, Pediatrics 2007 120 5 1255 e1261 10.1542/peds.2007- 0282 17938166
11. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Ruitjer GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, et al. Mol Genet Metab 2008 93 2 104 111 10.1016/j.ymgme.2007.09.011 18024218
12. Type III D MPS (Sanfilippo D): clinical course and symptoms. Tylki-Symánska A, Czartoryska B, Górska D, Piesiewicz-Grzonkowska E, Acta Paediatr Jpn 1998 40 5 492 494 10.1111/j.1442-200X.1998.tb01977.x 9821715
13. Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6- sulphatase gene. Beesly CE, Burke D, Jackson M, Vellodi A, Winchester BG, Young EP, J Med Genet 2003 40 3 192 194 10.1136/jmg.40.3.192 12624138
14. Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS gene. Jansen AC, Cao H, Kaplan P, Silver K, Leonard G, De Meirleir L, et al. Arch Neurol 2007 64 11 1629 1634 10.1001/archneur.64.11.1629 17998446
15. Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. Emre S, Terzioglu M, Tokatli A, et al. Human Mutat 2002 19 2 184 185
16. Analysis of Sanfilippo A gene mutations in a large pedigree. Di Natale P, Villani GR, Di Domenico C, et al. Clin Genet 2003 63 4 314 318 10.1034/j.1399-0004.2003.00053.x 12702166
17. Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. Canals I, Elalaoui SC, Pineda M, Delgadillo V, Szlago M, Joauad IC, Sefiani A, Chabás A, Coll MJ, Grinberg D, Vilageliu L, Clinical Genetics 2011 80 4 367 374 10.1111/j.1399-0004.2010.01525.x 20825431
18. The human gene mutation database Cardiff: Institute of Medical Genetics in Cardiff, Cardiff University Available at URL http://www.hgmd.org
19. Mucopolysaccharidosis Type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period. Malm G, Mansson JE, Acta Paediatr 2010 99 8 1253 1257 10.1111/j.1651-2227.2010.01800.x 20337777
20. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Héron B, Mikaeloff Y, Froissart R, Caridade G, Marie I, Caillaud C, et al. Am J Med Genet A 2011 155 A 1 58 68
21. Novel mutations in Sanfilippo A syndrome: implications for enzyme function. Weber B, Guo XH, Wraith JE, et al. Hum Mol Genet 1997 6 9 1573 1579 10.1093/hmg/6.9.1573 9285796
22. Identification of 16 sulfamidase gene mutations including the common R74 C in patients with mucopolysaccaharidosis type IIIA (Sanfilippo A). Bunge S, Ince H, Steglich C, et al. Hum Mutat 1997 10 6 479 485 10.1002/(SICI)1098- 1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X 9401012
23. Mutation 1091 del C is highly prevalent in Spanish Sanfilippo syndrome type A patients. Montfort M, Vilageliu L, Garcia-Giralt N, et al. Hum Mutat 1998 12 4 274 279 10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F 9744479
24. Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation. Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L, Am J Med Genet 2001 100 3 223 228 10.1002/ajmg.1248 11343308
25. Expression and functional characterization of human mutant sulfamidase in insect cells. Montfort M, Garrido E, Hopwood JJ, Grinberg D, Chabás A, Vilageliu L, Mol Genet Metab 2004 83 3 246 251 10.1016/j.ymgme.2004.07.001 15542396
26. Mutational analysis of Sanfilippo Syndrome Type A (MPSIIIA): identification of 13 novel mutations. Beesley CE, Young EP, Vellodi A, Winchester BG, J Med Genet 2000 37 9 704 707 10.1136/jmg.37.9.704 11182930
27. Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). Beesley CE, Jackson M, Young EP, et al. J Inherit Metab Dis 2005 28 5 759 767 10.1007/s10545-005-0093-y 16151907
28. Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). Beesley CE, Young EP, Vellodi A, Winchester BG, J Med Genet 1998 3 11 910 914
29. Mucoplysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel apha-N- acetylglucosaminidase gene mutations. Bunge S, Knigge A, Steglich C, Kleijer WJ, van Diggelen OP, Beck M, Gal A, J Med Genet 1999 36 1 28 31 9950362
30. Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations. Coll MJ, Anton C, Chabas A, J Inherit Metab Dis. 2001 24 1 83 84 10.1023/A:1005627311402 11286389
31. NAGLU mutations underlying Sanfilippo syndrome type B. Schmidtchen A, Greenberg D, Zhao HG, et al. Am J Hum Genet 1998 62 1 64 69 10.1086/301685 9443878
32. Prevalence of lysosomal storage disorders. Meikle PJ, Hopwood JJ, Clague AE, Carey WF, JAMA 1999 281 3 249 254 10.1001/jama.281.3.249 9918480
33. The frequency of lysosomal storage disease in The Netherlands. Poorthius BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Digglen OP, Hum Genet 1999 105 1-2 151 156 10480370
34. Cumulative incidence rates of the mucopolysaccharidosis in Germany. Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, et al. J Inherit Metab Dis 2004 28 6 1011 1017
35. Lysosomal storage disease in Greece. Michelakakis H, Dimitriou E, Tsagaraki S, Giourokos S, Schulpis K, Bartsocas CS, Genet Couns 1995 6 1 43 47 7794561
36. Prevalence of lysososmal storage diseases in Portugal. Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, et al. Eur J Hum Genet 2004 12 2 87 92 10.1038/sj.ejhg.5201044 14685153
37. Sanfilippo type B syndrome (mucopolysaccharidosis IIIB): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Weber B, Guo XH, Kleijer WJ, van de Kamp JJ, Poorthuis BJ, Hopwood JJ, Eur J Hum Genet 1999 7 1 34 44 10.1038/sj.ejhg.5200242 10094189
38. Biochemical and molecular analysis of mucopolysacharidoses in Turkey. Emre S, Terzioǧlu M, Coskun T, et al. Turk J Pediatr 2002 44 1 13 17 11858372
39. Mucoplysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, et al. Orphanet J of Rare Dis. 2011 6 72 10.1186/1750-1172-6-72
40. Behaviour in mucopolysaccharide disorders. Bax MC, Colville GA, Arch Dis Child 1995 73 1 77 81 10.1136/adc.73.1.77 7639557
41. Sleep problems in children with Sanfilippo syndrome. Colville GA, Watters JP, Yule W, Bax M, Dev Med Child Neurol 1996 38 6 538 544 8647333
42. Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study. Nidiffer FD, Kelly TE, J Ment Defic Res 1983 27 Pt 3 185 203 6415286
43. Musculoskeletal manifestations of Sanfilippo syndrome (mucopolysaccharidosis type III). White KK, Karol LA, Ehite DR, Ehite DR, Hale S, J Pediatr Orthop 2011 31 5 594 598 10.1097/BPO.0b013e31821f5ee9 21654471
44. Sanfilippo syndrome type C: Mutation spectrum in the heparan sulfate acetyl-CoA: Alpha glucosa-minide N-acetyltrasferase (HGSNAT) gene. Feldhammer M, Durand S, Mrazova L, et al. Hum Mutat 2009 30 918 925 10.1002/humu.20986 19479962
45. Identification and characterization of mutations underlying Sanfilippo syndrome type A(muchopolysaccharidosis type IIIA). Lee-Chen GJ, Lin SP, Ko MH, et al. Clinic Genet 2002 61 192 197 10.1034/j.1399-0004.2002.610304.x