Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations

Human Mutation

Volumn 31, Issue 5, 2010, Pages

  Valstar, Marlies J ^a,o   Bertoli Avella, Aida M ^a   Wessels, Marja W ^a   Ruijter, George J G ^a   De Graaf, Bianca ^a   Olmer, Renske ^a   Elfferich, Peter ^a   Neijs, Sanne ^a   Kariminejad, Roxana ^b   Ezgü, Fatih Suheyl ^c   Tokatli, Aysegul ^d   Czartoryska, Barbara ^e   Bosschaart, Ad N ^f   Van Den Bos Terpstra, Feikje ^g   Puissant, Hugues ^h   Bürger, Friederike ⁱ   Omran, Heymut ^j   Eckert, D ^k   Filocamo, Mirella ^l   Simeonov, Emil ^m   Willems, Patrick J ^a   Wevers, Ron A ⁿ   Niermeijer, Martinus F ^a   Halley, Dicky J J ^a   Poorthuis, Ben J H M ^o   Van Diggelen, Otto P ^a,o   more..

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

^c GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^d HACETTEPE UNIVERSITY   (Turkey)

^e INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^f Nederlands Astmacentrum Davos   (Switzerland)

^g 't Bouwhuis   (Netherlands)

^h ANGERS UNIVERSITY HOSPITAL   (France)

ⁱ Stoffwechselzentrum   (Germany)

^j UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^k UNIVERSITY HOSPITAL ULM   (Germany)

^l G GASLINI INSTITUTE   (Italy)

^m UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

ⁿ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^o ACADEMIC MEDICAL CENTER   (Netherlands)

more..

Author keywords

N acetylglucosamine 6 sulphate sulphatase; N acetylglucosamine 6 sulphatase; GNS; Mucopolysaccharidosis IIID; Mutations; Sanfilippo syndrome

Indexed keywords

N ACETYLGLUCOSAMINE 6 SULFATASE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; BEHAVIOR DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMMUNICATION DISORDER; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC CODE; GROWTH RETARDATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFRAME DELETION; MALE; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SANFILIPPO SYNDROME; SANFILIPPO SYNDROME TYPE D; SCHOOL CHILD; SEQUENCE ANALYSIS; SPLICING DEFECT; VERBAL COMMUNICATION; WILD TYPE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS III; MUTATION; PHENOTYPE; SULFATASES; YOUNG ADULT;

EID: 77951817853     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21234     Document Type: Article

References (26)

1. Abeling NG, Wadman SK, Van Gennip AH. 1974. Two-dimensional electrophoresis of urinary mucopolysaccharides on cellulose acetate after N-cetylpyridiniumchloride (CPC) precipitation: a method suitable for the routine laboratory. Clin Chim Acta 56:297-303.
2. Beesley CE, Burke D, Jackson M, Vellodi A, Winchester BG, Young EP. 2003. Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene. J Med Genet 40:192-194. (Pubitemid 36315391)
3. Beesley CE, Concolino D, Filocamo M, Winchester BG, Strisciuglio P. 2007. Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID). Mol Genet Metab 90:77-80. (Pubitemid 44856287)
4. Coppa GV, Giorgi PL, Felici L, Gabrielli O, Donti E, Bernasconi S, Kresse H, Paschke E, Mastropaolo C. 1983. Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases. Eur J Pediatr 140:130-133. (Pubitemid 13096255)
5. de Jong JG, Wevers RA, Liebrand-van SR. 1992. Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. Clin Chem 38:803-807.
6. del Canho H., van den Bergh FA, Duran M, Hennekam RC, Groniger AM, Poorthuis BJ. 1993. [Type D Sanfilippo disease in an 8-year-old boy; a rare cause of mental retardation]. Ned Tijdschr Geneeskd 137:969-972.
7. Gatti R, Borrone C, Durand P, De VS, Sanna G, Cao A, von FK, Kresse H, Paschke E. 1982. Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III. Eur J Pediatr 138:168-171. (Pubitemid 12141773)
8. He W, Voznyi Y, Boer AM, Kleijer WJ, van Diggelen OP. 1993. A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID). J Inherit Metab Dis 16:935-941. (Pubitemid 23349975)
9. Jansen AC, Cao H, Kaplan P, Silver K, Leonard G, De ML, Lissens W, Liebaers I, Veilleux M, Andermann F, Hegele RA, Andermann E. 2007. Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene. Arch Neurol 64:1629-1634. (Pubitemid 350106765)
10. Jones MZ, Alroy J, Rutledge JC, Taylor JW, Alvord EC, Jr., Toone J, Applegarth D, Hopwood JJ, Skutelsky E, Ianelli C, Thorley-Lawson D, Mitchell-Herpolsheimer C, Arias A, Sharp P, Evans W, Sillence D, Cavanagh KT. 1997. Human mucopolysaccharidosis IIID: clinical, biochemical, morphological and immunohistochemical characteristics. J Neuropathol Exp Neurol 56:1158-1167. (Pubitemid 27430478)
11. Kaplan P, Wolfe LS. 1987. Sanfilippo syndrome type D. J Pediatr 110:267-271.
12. Kresse H, Paschke E, von FK, Gilberg W, Fuchs W. 1980. Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. Proc Natl Acad Sci U S A 77:6822-6826.
13. Kuzmiak HA, Maquat LE. 2006. Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med 12:306-316.
14. Lualdi S, Di RM, Corsolini F, Spada M, Bembi B, Cotugno G, Battini R, Stroppiano M, Gabriela PM, Filocamo M. 2006. Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms. Biochim Biophys Acta 1762:478-484.
15. Meyer A, Kossow K, Gal A, Muhlhausen C, Ullrich K, Braulke T, Muschol N. 2007. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics 120:e1255-e1261.
16. Mok A, Cao H, Hegele RA. 2003. Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. Genomics 81:1-5.
17. Ozand PT, Thompson JN, Gascon GG, Sarvepalli SB, Rahbeeni Z, Nester MJ, Brismar J. 1994. Sanfilippo type D presenting with acquired language disorder but without features of mucopolysaccharidosis. J Child Neurol 9:408-411.
18. Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van WS, Niezen-Koning KE, Van Diggelen OP. 1999. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105:151-156.
19. Robertson DA, Callen DF, Baker EG, Morris CP, Hopwood JJ. 1988. Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14. Hum Genet 79:175-178.
20. Robertson DA, Freeman C, Morris CP, Hopwood JJ. 1992. A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases. Biochem J 288 ( Pt 2):539-544.
21. Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, Van Diggelen OP, Wevers RA, Poorthuis BJ, Pshezhetsky AV, Wijburg FA. 2008. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab 93:104-111.
22. Siciliano L, Fiumara A, Pavone L, Freeman C, Robertson D, Morris CP, Hopwood JJ, Di NP, Musumeci S, Horwitz AL. 1991. Sanfilippo syndrome type D in two adolescent sisters. J Med Genet 28:402-405.
23. Tylki-Szymanska A, Czartoryska B, Gorska D, Piesiewicz-Grzonkowska E. 1998. Type III D mucopolysaccharidosis (Sanfilippo D): clinical course and symptoms. Acta Paediatr Jpn 40:492-494.
24. Valstar MJ, Ruijter GJ, Van Diggelen OP, Poorthuis BJ, Wijburg FA. 2008. Sanfilippo syndrome: A mini-review. J Inherit Metab Dis 31:240-252.
25. van de Kamp JJ, Niermeijer MF, von FK, Giesberts MA. 1981. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet 20:152-160.
26. Whiteman P, Henderson H. 1977. A method for the determination of amniotic-fluid glycosaminoglycans and its application to the prenatal diagnosis of Hurler and Sanfilippo diseases. Clin Chim Acta 79:99-105.