Mucopolysaccharidosis type IIIB mutations in Chinese patients: Identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis

Clinica Chimica Acta

Volumn 419, Issue , 2013, Pages 33-38

  Tang, Jia ^a   Pan, Jingxin ^b   Guo, Yibin ^a   Ai, Yang ^a   Jiang, Weiying ^a   Du, Minlian ^c   Fang, Qun ^c  

^a SUN YAT SEN UNIVERSITY   (China)

^b FUJIAN MEDICAL UNIVERSITY   (China)

^c SUN YAT SEN UNIVERSITY   (China)

Author keywords

Gene mutation; Mucopolysaccharidosis IIIB; NAGLU; Prenatal gene diagnosis; Sanfilippo syndrome type B

Indexed keywords

ADENINE; ARGININE; CYSTEINE; CYTOSINE; DNA; GLUTAMINE; GUANINE; THYMINE; TRYPTOPHAN;

ADOLESCENT; ARTICLE; BIOINFORMATICS; CHILD; CHINESE; CLINICAL ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA DETERMINATION; DNA SEQUENCE; FEMALE; GENE; GENE ACTIVITY; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NAGLU GENE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION MAPPING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SANFILIPPO SYNDROME; SANFILIPPO SYNDROME TYPE B; SCHOOL CHILD; SEQUENCE ANALYSIS; URINALYSIS; VALIDATION STUDY;

ACETYLGLUCOSAMINIDASE; ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHINA; FEMALE; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS III; MUTATION; PRENATAL DIAGNOSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 84874383981     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2013.01.009     Document Type: Article

References (28)

1. Champion K.J., Basehore M.J., Wood T., Destree A., Vannuffel P., Maystadt I. Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB). Mol Genet Metab 2010, 100:51-56.
2. Valstar M.J., Ruijter G.J.G., van Diggelen O.P., Poorthuis B.J., Wijburg F.A. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis 2008, 31:240-252.
3. Cleary M.A., Wraith J.E. Management of mucopolysaccharidosis type III. Arch Dis Child 1993, 69:403-406.
4. Moog U., Van Mierlo I., van Schrojenstein Lantman-de Valk H.M.J., Spaapen L., Maaskant M.A., Curfs L.M.G. Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?. Am J Med Genet C Semin Med Genet 2007, 145C:293-301.
5. Valstar M.J., Bruggenwirth H.T., Olmer R., et al. Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis 2010, 33:759-767.
6. Yogalingam G., Weber B., Meehan J., Rogers J., Hopwood J.J. Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with Sanfilippo phenotype in an attenuated patient. Biochim Biophys Acta (BBA) - Mol Basis Dis 2000, 1502:415-425.
7. Ouesleti S., Brunel V., Ben Turkia H., et al. Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients. Clin Chim Acta 2011, 412:2326-2331.
8. Yi-bin G., Jing-xin P., Ya-xian M. A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome. J Zhejiang Univ Sci B 2007, 8:566-569.
9. Marsh J., Fensom A.H. 4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease. Clin Genet 1985, 27:258-262.
10. Jiang W.Y., Yu G.L., Liu P., et al. Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese population. Hum Genet 2006, 119:463-478.
11. Beesley C.E., Young E.P., Vellodi A., Winchester B.G. Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). J Med Genet 1998, 35:910-914.
12. Bunge S., Knigge A., Steglich C., et al. Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. J Med Genet 1999, 36:28-31.
13. Weber B., Guo X.H., Kleijer W.J., van de Kamp J.J.P., Poorthuis B., Hopwood J.J. Sanfilippo type B syndrome (mucopolysaccharidosis IIIB): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Eur J Hum Genet 1999, 7:34-44.
14. Tessitore A., Villani G.R.D., Di Domenico C., Filocamo M., Gatti R., Di Natale P. Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients. Hum Genet 2000, 107:568-576.
15. Tanaka A., Kimura M., Lan H.T.N., Takaura N., Yamano T. Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations. J Hum Genet 2002, 47:484-487.
16. Mangas M., Nogueira C., Prata M.J., et al. Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula. Clin Genet 2008, 73:251-256.
17. Lee-Chen G.J., Lin S.P., Lin S.Z., et al. Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). J Med Genet 2002, 39:E3.
18. Chinen Y., Tohma T., Izumikawa Y., Uehara H., Ohta T. Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. J Hum Genet 2005, 50:357-359.
19. Cooper D.N., Youssoufian H. The CpG dinucleotide and human genetic disease. Hum Genet 1988, 78:151-155.
20. Vogel F., Motulsky A.G. Human genetics: problems and approaches 1997, [xxxvi+851 pp.]. 3rd ed.
21. Scott H.S., Bunge S., Gal A., Clarke L.A., Morris C.P., Hopwood J.J. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat 1995, 6:288-302.
22. Bunge S., Ince H., Steglich C., et al. Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). Hum Mutat 1997, 10:479-485.
23. Weber B., Guo X.H., Wraith J.E., et al. Novel mutations in Sanfilippo A syndrome: implications for enzyme function. Hum Mol Genet 1997, 6:1573-1579.
24. Di Natale P., Balzano N., Esposito S., Villani G.R.D. Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. Hum Mutat 1998, 11:313-320.
25. Yogalingam G., Hopwood J.J. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: diagnostic, clinical, and biological implications. Hum Mutat 2001, 18:264-281.
26. Beesley C.E., Jackson M., Young E.P., Vellodi A., Winchester B.G. Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis 2005, 28:759-767.
27. Jacobson A., Peltz S.W. Interrelationships of the pathways of mRNA decay and translation in eukaryotic cells. Annu Rev Biochem 1996, 65:693-739.
28. Zhang W.M., Shi H.P., Meng Y., Li B.T., Qiu Z.Q., Liu J.T. Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome). Zhonghua Er Ke Za Zhi 2008, 46:407-410.