Genotype-phenotype correspondence in Sanfilippo syndrome type B

American Journal of Human Genetics

Volumn 62, Issue 1, 1998, Pages 53-63

  Zhao, Hong G ^a   Aronovich, Elena L ^a   Whitley, Chester B ^a,b  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA N ACETYLGLUCOSAMINIDASE;

ADULT; ARTICLE; AUTOMATION; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; FAMILY STUDY; FEMALE; GENOTYPE; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SANFILIPPO SYNDROME; SYNDROME DELINEATION;

EID: 0031939728     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301682     Document Type: Article

References (32)

1. Andria G, Di Natale P, Del Giudice E, Strisciuglio P, Murino P (1979) Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship. Clin Genet 15: 500-504
2. Aronovich EL, Zhao HG, Neufeld EF, Whitley CB (1996) Mutation analysis in Sanfilippo syndrome type B by automated sequencing of the NAGLU coding region. Am J Hum Genet Suppl 59:A246
3. Ballabio A, Pallini R, Di NP (1984) Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients. Clin Genet 25: 191-195
4. Beaudet AL, Tsui LC (1993) A suggested nomenclature for designating mutations. Hum Mutat 2:245-248
5. Beutler E, McKusick VA, Motulsky AG, Scriver CR, Hutchinson F (1996) Mutation nomenclature: nicknames, systematic names, and unique identifiers. Hum Mutat 8: 203-206
6. Di Natale P (1991) Sanfilippo B disease: a re-examination of a particular sibship after 12 years. J Inherit Metab Dis 14:23-28
7. Di Natale P, Murino P, Pontarelli G, Salvatore D, Andria G (1982) Sanfilippo B syndrome (MPS III B): altered residual alpha-N-acetylglucosaminidase activity in an unusual sibship. Clin Chim Acta 122:135-143
8. Hara A, Kitazawa N, Taketomi T (1984) Abnormalities of glycosphingolipids in mucopolysaccharidosis type III B. J Lipid Res 25:175-184
9. Haust MD, Gordon BA (1986) Ultrastructural and biochemical aspects of the Sanfilippo syndrome - type III genetic mucopolysaccharidosis. Connect Tissue Res 15: 57-64
10. Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ (1997) Molecular basis for Duarte and Los Angeles variant galactosemia. Am J Hum Genet 60:366-372
11. Murata R, Nakajima S, Tanaka A, Miyagi N, Matsuoka O, Kogame S, Inoue Y (1989) MR imaging of the brain in patients with mucopolysaccharidosis. Am J Neuroradiol 10:1165-1170
12. Muul LM, Soenen SL, Walker R, Ram Z, Oldfield EH, Blaese RM (1997) Studies of the immune response in patients receiving gene therapy. In: Blau HM, Wilson JM (eds) Molecular and cellular biology of gene therapy. Keystone Symposia, Snowbird, UT, pp 52
13. Neufeld EF, Muenzer J (1995) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 7th ed. McGraw-Hill, New York, pp 2465-2494
14. Pande H, Chester A, Lie H, Thorsby E, Stormorken H (1992) Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia: further evidence of a hyperactive alpha-N-acetylglucosaminidase-producing allele. Clin Genet 41:243-247
15. Powell JR, Moriyama EN (1997) Evolution of codon usage bias in Drosophila. Proc Natl Acad Sci USA 94: 7784-7790
16. Richards SM, Olson TA, McPherson JM (1993) Antibody response in patients with Gaucher disease after repeated infusion with macrophage-targeted glucocerebrosidase. Blood 82:1402-1409
17. Sanfilippo SJ, Good RA (1964) A laboratory study of the Hurler syndrome. Am J Dis Child 102:140
18. Selvaggi TA, Walker RE, Fleisher TA (1997) Development of antibodies to fetal calf serum with arthus-like reactions in human immunodeficiency virus-infected patients given syngeneic lymphocyte infusions. Blood 89:776-779
19. Vance JM, Conneally PM, Wappner RS, Yu PL, Brandt IK, Pericak-Vance MA (1981) Carrier detection in Sanfilippo syndrome type B: report of six families. Clin Genet 20: 135-140
20. Vance JM, Pericak-Vance MA, Elston RC, Conneally PM, Namboodiri KK, Wappner RS, Yu PL (1980) Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism. Am J Med Genet 7:131-140
21. van de Kamp J, Niermeijer MF, von Figura K, Giesberts MA (1981) Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet 20:152-160
22. van Schrojenstein-de Valk H, van de Kamp J (1987) Follow-up on seven adult patients with mild Sanfilippo B-disease. Am J Med Genet 28:125-129
23. Vellodi A, Young E, New M, Pot-Mees C, Hugh-Jones K (1992) Bone marrow transplantation for Sanfilippo disease type B. J Inherit Metab Dis 15:911-918
24. von Figura K, Hasilik A, Steckel F, van de Kamp J (1984) Biosynthesis and maturation of α-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblasts. Am J Hum Genet 36:93-100
25. von Figura K, Kresse H (1972) The Sanfilippo B corrective factor: a N-acetyl-alpha-D-glucosamindiase. Biochem Biophys Res Commun 48:262-269
26. von Figura K, Logering M, Kresse H (1975) Serum alpha-N-acetylglucosaminidase: determination, characterization, and corrective activity in Sanifilippo B fibroblasts. Z Klin Chem Klin Biochem 13:285-289
27. von Figura K, Logering M, Mersmann G, Kresse H (1973) Sanfilippo B disease: serum assays for detection of homozygous and heterozygous individuals in three families. J Pediatr 83:607-611
28. Weber B, Blanch L, Clements PR, Scott HS, Hopwood JJ (1996) Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). Hum Mol Genet 5:771-777
29. Whitley CB, Belani KG, Chang PN, Summers CG, Blazar BR, Tsai MY, Latchaw RE, et al (1993) Long-term outcome of Hurler syndrome following bone marrow transplantation. Am J Med Genet 46:209-218
30. Whitley CB, Krivit W, Ramsay NKC, Kersey JH, Chang PN, Latchaw RE, Blazar BR, et al (1993) Mutation analysis and clinical outcome of patients with Hurler syndrome (mucopolysaccharidosis type I-H) undergoing bone marrow transplantation. Am J Hum Genet Suppl 53:101
31. Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF (1996) The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci USA 93:6101-6105
32. Zhao HG, Lopez R, Rennecker J, Neufeld EF (1994) Sanfilippo syndrome type B: cDNA and gene encoding human α-N-acetyl glycosaminidase. Am J Hum Genet Suppl 55: A252