Gaucher disease: Molecular biology and genotype-phenotype correlations

Gaucher Disease

Volumn , Issue , 2006, Pages 13-48

  Hruska, Kathleen S ^a   LaMarca, Mary E ^a   Sidransky, Ellen ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84920501687     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1201/9781420005509     Document Type: Chapter

References (166)

1. Barneveld, R.A. et al., Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies, Hum. Genet., 64, 227, 1983.
2. Ginns, E.I. et al., Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system, Biochem. Biophys. Res. Commun., 123, 574, 1984.
3. Sorge, J. et al., Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA, Proc. Natl. Acad. Sci. U.S.A., 82, 7289, 1985.
4. Horowitz, M. et al., The human glucocerebrosidase gene and pseudogene: structure and evolution, Genomics. 4, 87, 1989.
5. Winfield, S.L. et al., Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease, Genome Res., 7, 1020, 1997.
6. Tsuji, S. et al., A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher’s disease, N. Engl. J. Med., 316, 570, 1987.
7. Beutler, E. and Gelbart, T., Gaucher disease mutations in non-Jewish patients, Br. J. Haematol., 85, 401, 1993.
8. Grabowski, G.A. and Horowitz, M., Gaucher’s disease: molecular, genetic and enzymological aspects, Baillieres Clin. Haematol., 10, 635, 1997.
9. Dvir, H. et al., X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease, EMBO Rep., 4, 704, 2003.
10. Zimran, A. et al., Prediction of severity of Gaucher’s disease by identification of mutations at DNA level, Lancet. 2, 349, 1989.
11. Beutler, E., Gaucher disease: new molecular approaches to diagnosis and treatment, Science. 256, 794, 1992.
12. Sidransky, E. et al., DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? Hum. Mutat., 3, 25, 1994.
13. Grabowski, G.A., Gaucher disease: gene frequencies and genotype/phenotype correlations, Genet. Test. 1, 5, 1997.
14. Koprivica, V. et al., Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease, Am. J. Hum. Genet., 66, 1777, 2000.
15. Eyal, N., Wilder, S., and Horowitz, M., Prevalent and rare mutations among Gaucher patients, Gene. 96, 277, 1990.
16. Hong, C.M. et al., Sequence of two alleles responsible for Gaucher disease, DNA Cell Biol., 9, 233, 1990.
17. Latham, T. et al., Complex alleles of the acid beta-glucosidase gene in Gaucher disease, Am. J. Hum. Genet., 47, 79, 1990.
18. Zimran, A. et al., A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder, J. Clin. Invest., 85, 219, 1990.
19. Latham, T.E. et al., Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients, DNA Cell Biol., 10, 15, 1991.
20. Long, G.L. et al., Structure and organization of the human metaxin gene (MTX) and pseudogene, Genomics. 33, 177, 1996.
21. Adolph, K.W. et al., Structure and organization of the human thrombospondin 3 gene (THBS3), Genomics. 27, 329, 1995.
22. Armstrong, L.C. et al., Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion, J. Biol. Chem., 272, 6510, 1997.
23. Thomas, J.W. et al., Comparative analyses of multi-species sequences from targeted genomic regions, Nature. 424, 788, 2003.
24. LaMarca, M.E. et al., Multi-species comparative sequence analysis of the glucocerebrosidase gene locus, Am. J. Hum. Genet., 74, A1579, 2004.
25. Graves, P.N. et al., Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient, DNA. 7, 521, 1988.
26. Reiner, O., Wigderson, M., and Horowitz, M., Structural analysis of the human glucocerebrosidase genes, DNA. 7, 107, 1988.
27. Sorge, J.A. et al., The human glucocerebrosidase gene has two functional ATG initiator codons, Am. J. Hum. Genet., 41, 1016, 1987.
28. Pasmanik-Chor, M. et al., Overexpression of human glucocerebrosidase containing different-sized leaders, Biochem. J., 317 (Pt 1), 81, 1996.
29. Martin, B.M., Sidransky, E., and Ginns, E.I., Gaucher’s disease: advances and challenges, Adv. Pediatr., 36, 277, 1989.
30. Berg-Fussman, A. et al., Human acid beta-glucosidase. N-glycosylation site occupancy and the effect of glycosylation on enzymatic activity, J. Biol. Chem., 268, 14861, 1993.
31. Reiner, O. et al., Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA, DNA. 6, 101, 1987.
32. Reiner, O. and Horowitz, M., Differential expression of the human glucocerebrosidase- coding gene, Gene. 73, 469, 1988.
33. Wigderson, M. et al., Characterization of mutations in Gaucher patients by cDNA cloning, Am. J. Hum. Genet., 44, 365, 1989.
34. Doll, R.F. and Smith, F.I., Regulation of expression of the gene encoding human acid beta-glucosidase in different cell types, Gene. 127, 255, 1993.
35. Xu, Y.H., Wenstrup, R., and Grabowski, G.A., Effect of cellular type on expression of acid beta-glucosidase: implications for gene therapy in Gaucher disease, Gene Ther., 2, 647, 1995.
36. Moran, D., Galperin, E., and Horowitz, M., Identification of factors regulating the expression of the human glucocerebrosidase gene, Gene. 194, 201, 1997.
37. Tsuji, S. et al., Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals, Proc. Natl. Acad. Sci. U.S.A., 85, 2349, 1988.
38. Beutler, E. et al., Gaucher disease: gene frequencies in the Ashkenazi Jewish population, Am. J. Hum. Genet., 52, 85, 1993.
39. Tayebi, N. et al., Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease, Am. J. Hum. Genet., 72, 519, 2003.
40. Sarria, A.J. et al., Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55; 1342G>C]) in Spanish Gaucher disease patients. Mutation in brief no. 251. Online, Hum. Mutat., 14, 88, 1999.
41. Cormand, B. et al., A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease, Blood Cells Mol. Dis., 26, 409, 2000.
42. Stone, D.L. et al., Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease, Hum. Mutat., 15, 181, 2000.
43. Park, J.K. et al., The E326K mutation and Gaucher disease: mutation or polymorphism? Clin. Genet., 61, 32, 2002.
44. Walker, J.M. et al., Glucocerebrosidase mutation T369M appears to be another polymorphism, Clin. Genet., 63, 237, 2003.
45. Eyal, N. et al., Three unique base pair changes in a family with Gaucher disease, Hum. Genet., 87, 328, 1991.
46. Beutler, E., Demina, A., and Gelbart, T., Glucocerebrosidase mutations in Gaucher disease, Mol. Med., 1, 82, 1994.
47. Torralba, M.A. et al., Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients, Blood Cells Mol. Dis., 27, 489, 2001.
48. Torralba, M.A. et al., Erratum: Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients (vol 27(2), 489-95, 2001), Blood Cells Mol. Dis., 27, 713, 2001.
49. Zhao, H. et al., Gaucher’s disease: identification of novel mutant alleles and genotypephenotype relationships, Clin. Genet., 64, 57, 2003.
50. Montfort, M. et al., Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and “modifier” polymorphisms, Hum. Mutat., 23, 567, 2004.
51. Hodanova, K. et al., Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles, Blood Cells Mol. Dis., 25, 287, 1999.
52. Martinez-Arias, R. et al., Glucocerebrosidase pseudogene variation and Gaucher disease: recognizing pseudogene tracts in GBA alleles, Hum. Mutat., 17, 191, 2001.
53. Park, J.K. et al., Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup, Pediatr. Res., 53, 387, 2003.
54. Uyama, E. et al., Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with β-glucocerebrosidase deficiency and a mosaic population of storage cells, Acta Neurol. Scand., 86, 407, 1992.
55. Abrahamov, A. et al., Gaucher’s disease variant characterised by progressive calcification of heart valves and unique genotype, Lancet. 346, 1000, 1995.
56. Chabas, A. et al., Unusual expression of Gaucher’s disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation, J. Med. Genet., 32, 740, 1995.
57. Goker-Alpan, O. et al., Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3, J. Pediatr., 143, 273, 2003.
58. Sidransky, E., Gaucher disease: complexity in a “simple” disorder, Mol. Genet. Metabol., 83, 6, 2004.
59. Lachmann, R.H. et al., Twin pairs showing discordance of phenotype in adult Gaucher’s disease, Qjm. 97, 199, 2004.
60. Amato, D. et al., Gaucher disease: variability in phenotype among siblings, J. Inherit. Metab. Dis., 27, 659, 2004.
61. Goker-Alpan, O. et al., Divergent phenotypes in Gaucher disease implicate the role of modifiers, J. Med. Genet., 42, e37, 2005.
62. Zhao, H. et al., Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes, Am. J. Med. Genet., 116A, 52, 2003.
63. Kim, J.W. et al., Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations, Hum. Mutat., 7, 214, 1996.
64. Germain, D.P. et al., Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease, Am. J. Hum. Genet., 63, 415, 1998.
65. Ida, H. et al., Mutation screening of 17 Japanese patients with neuropathic Gaucher disease, Hum. Genet., 98, 167, 1996.
66. Hatton, C.E. et al., Mutation analysis in 46 British and Irish patients with Gaucher’s disease, Arch. Dis. Child., 77, 17, 1997.
67. Pasmanik-Chor, M. et al., Expression of mutated glucocerebrosidase alleles in human cells, Hum. Mol. Genet., 6, 887, 1997.
68. Miocic, S. et al., Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1, Hum. Mutat., 25, 100, 2005.
69. Grace, M.E. et al., Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression, J. Biol. Chem., 269, 2283, 1994.
70. Hodanova, K. et al., Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system, Eur. J. Hum. Genet., 11, 369, 2003.
71. Sorge, J. et al., Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene, Proc. Natl. Acad. Sci. U.S.A., 82, 5442, 1985.
72. Zimran, A., Gelbart, T., and Beutler, E., Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease, Am. J. Hum. Genet., 46, 902, 1990.
73. Beutler, E., West, C., and Gelbart, T., Polymorphisms in the human glucocerebrosidase gene, Genomics. 12, 795, 1992.
74. Masuno, M. et al., Restriction fragment length polymorphism analysis in healthy Japanese individuals and Japanese families with Gaucher disease, Acta Paediatr. Jpn., 31, 158, 1989.
75. Glenn, D., Gelbart, T., and Beutler, E., Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes, Hum. Genet., 93, 635, 1994.
76. − GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations, Hum. Genet., 110, 532, 2002.
77. Cormand, B. et al., Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease, Hum. Genet., 100, 75, 1997.
78. Lacerda, L. et al., The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism, J. Inherit. Metab. Dis., 17, 85, 1994.
79. Amaral, O. et al., Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation, Blood Cells Mol. Dis., 23, 415, 1997.
80. Cormand, B. et al., Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome, Hum. Mutat., 11, 295, 1998.
81. Demina, A., Boas, E., and Beutler, E., Structure and linkage relationships of the region containing the human L-type pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes, Hematopathol. Mol. Hematol., 11, 63, 1998.
82. Rockah, R. et al., Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene, Am. J. Med. Genet., 78, 233, 1998.
83. − genotype in Italian patients with Gaucher disease, Hum. Mol. Genet., 2, 781, 1993.
84. Iwasawa, K., Ida, H., and Eto, Y., Differences in origin of the 1448C mutation in patients with Gaucher disease, Acta Paediatr. Jpn., 39, 451, 1997.
85. Rodriguez-Mari, A. et al., New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms, Blood Cells Mol. Dis., 27, 950, 2001.
86. Lau, E.K. et al., Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease, Hum. Genet., 104, 293, 1999.
87. Martinez-Arias, R. et al., Sequence variability of a human pseudogene, Genome Res., 11, 1071, 2001.
88. LaMarca, M.E. et al., A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease, J. Hum. Genet., 49, 220, 2004.
89. Beutler, E., Gelbart, T., and West, C., Identification of six new Gaucher disease mutations, Genomics. 15, 203, 1993.
90. Sinclair, G., Choy, F.Y., and Ferreira, P., Heterologous expression and characterization of a rare Gaucher disease mutation (c.481C > T) from a Canadian aboriginal population using archival tissue samples, Mol. Genet. Metab., 74, 345, 2001.
91. Alfonso, P. et al., Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations, Blood Cells Mol. Dis., 27, 882, 2001.
92. Bodamer, O.A. et al., Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S), Am. J. Med. Genet., 109, 328, 2002.
93. Choy, F.Y., Humphries, M.L., and Shi, H., Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients, Am. J. Med. Genet., 71, 172, 1997.
94. Sinclair, G., Choy, F.Y., and Humphries, L., A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease, Blood Cells Mol. Dis., 24, 420, 1998.
95. Beutler, E. et al., Five new Gaucher disease mutations, Blood Cells Mol. Dis., 21, 20, 1995.
96. Grace, M.E., Desnick, R.J., and Pastores, G.M., Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients, J. Clin. Invest., 99, 2530, 1997.
97. Beutler, E. et al., Gaucher disease: four families with previously undescribed mutations, Proc. Assoc. Am. Physicians. 108, 179, 1996.
98. Choy, F.Y. et al., Identification of two novel mutations, L105R and C342R, in Type I Gaucher disease, Clin. Genet., 61, 229, 2002.
99. Demina, A. and Beutler, E., Six new Gaucher disease mutations, Acta Haematol., 99, 80, 1998.
100. Amaral, O. et al., Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients, Eur. J. Hum. Genet., 8, 95, 2000.
101. Chabas, A. et al., Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain, J. Inherit. Metab. Dis., 19, 798, 1996.
102. Tang, N.L. et al., Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression, Hum. Mutat., 26, 59, 2005.
103. Stone, D.L. et al., Type 2 Gaucher disease: the collodion baby phenotype revisited, Arch. Dis. Child. Fetal. Neonatal. Ed., 82, F163, 2000.
104. Orvisky, E. et al., The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease, Hum. Mutat., 19, 458, 2002.
105. Filocamo, M. et al., Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients, Hum. Mutat., 20, 234, 2002.
106. Cormand, B. et al., Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation, Am. J. Med. Genet., 80, 343, 1998.
107. Choy, F.Y. and Wei, C., Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease, Hum. Mutat., 5, 345, 1995.
108. Choy, F.Y. et al., Novel point mutation (W184R) in neonatal type 2 Gaucher disease, Pediatr. Dev. Pathol., 3, 180, 2000.
109. Ida, H. et al., Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations, J. Inherit. Metab. Dis., 20, 67, 1997.
110. Choy, F.Y., Humphries, M.L., and Ben-Yoseph, Y., A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online, Hum. Mutat., 11, 411, 1998.
111. Choy, F.Y., Wong, K., and Shi, H.P., Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients, Am. J. Med. Genet., 84, 484, 1999.
112. Kawame, H. and Eto, Y., A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients, Am. J. Hum. Genet., 49, 1378, 1991.
113. Cooper, A., Church, H.J., and Wraith, J.E., Gaucher disease, Hum. Genet., 108, 82, 2001.
114. Beutler, E. and Gelbart, T., Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution, Ann. Hum. Genet., 54 (Pt 2), 149, 1990.
115. Grace, M.E. et al., Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease, J. Clin. Invest., 103, 817, 1999.
116. Eblan, M. and Sidransky, E., Unpublished data.
117. Walley, A.J., Ellis, I., and Harris, A., Three unrelated Gaucher’s disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D), Br. J. Haematol., 91, 330, 1995.
118. He, G.S., Grace, M.E., and Grabowski, G.A., Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants, Hum. Mutat., 1, 423, 1992.
119. Stone, D.L. et al., Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? Eur. J. Hum. Genet., 7, 505, 1999.
120. Cormand, B. et al., Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher’s disease patients, Hum. Mutat., 7, 272, 1996.
121. Parenti, G. et al., A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs, Clin. Genet., 53, 281, 1998.
122. Tsai, F.J. et al., Mutation analysis of type II Gaucher disease in five Taiwanese children: identification of two novel mutations, Acta Paediatr. Taiwan. 42, 231, 2001.
123. Beutler, E. and Gelbart, T., Two new Gaucher disease mutations, Hum. Genet., 93, 209, 1994.
124. Kawame, H. et al., Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms, Hum. Genet., 90, 294, 1992.
125. Church, H.J., Cooper, A., and Wraith, J.E., Gaucher disease, Hum. Genet., 108, 83, 2001.
126. Shamseddine, A. et al., Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family, Am. J. Med. Genet. A, 125, 257, 2004.
127. Cormand, B. et al., Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses, Am. J. Med. Genet., 70, 437, 1997.
128. Laubscher, K.H. et al., Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene, Hum. Mutat., 3, 411, 1994.
129. Cabrera-Salazar, M.A. et al., Mutation analysis of 25 Columbian Gaucher disease patients using dHPLC: report of three novel mutations, Am. J. Hum. Genet., 74, A1819, 2004.
130. Walley, A.J. and Harris, A., A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher’s disease, Hum. Mol. Genet., 2, 1737, 1993.
131. Ponce, E. and Grabowski, G.A., W381Ter: Novel mutation in the coding sequence of the acid beta-glucosidase gene of a Type 1 Gaucher patient who developed neutralizing antibodies, Am. J. Hum. Genet., 67, 287, 2000.
132. Morar, B. and Lane, A., The molecular characterization of Gaucher disease in South Africa, Clin. Genet., 50, 78, 1996.
133. Theophilus, B.D. et al., Comparison of RNase A, a chemical cleavage and GCclamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene, Nucleic Acids Res., 17, 7707, 1989.
134. Amaral, O. et al., Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese, Hum. Mutat., 8, 280, 1996.
135. Seeman, P.J. et al., Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease, Neurology. 46, 1102, 1996.
136. Wasserstein, M.P. et al., Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation, Am. J. Med. Genet., 84, 334, 1999.
137. Ohashi, T. and Eto, Y., Molecular analysis of Japanese Gaucher disease, J. Inherit. Metab. Dis., 12, 355, 1989.
138. Choy, F.Y. et al., A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient, Hum. Mol. Genet., 3, 821, 1994.
139. Tuteja, R. et al., Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site, Hum. Genet., 94, 314, 1994.
140. Uchiyama, A. et al., New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P, Hum. Mol. Genet., 3, 1183, 1994.
141. Cooper, A. and Wraith, J.E., Gene symbol: GBA, disease: Gaucher disease 1, Hum. Genet., 108, 82, 2001.
142. Choy, F.Y., Humphries, M.L., and Ben-Yoseph, Y., Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient, Am. J. Med. Genet., 78, 92, 1998.
143. Beutler, E. et al., Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state, Proc. Natl. Acad. Sci. U.S.A., 88, 10544, 1991.
144. Choy, F.Y., Humphries, M.L., and Ferreira, P., Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient, Am. J. Med. Genet., 68, 211, 1997.
145. Wu, J.Y. et al., Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease, Hum. Mutat., 17, 238, 2001.
146. Felderhoff-Mueser, U., et al., Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence, Am. J. Med. Genet., 128A, 138, 2004.
147. Tayebi, N. et al., Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene, Am. J. Med. Genet., 73, 41, 1997.
148. Germain, D.P., Kaneski, C.R., and Brady, R.O., Mutation analysis of the acid betaglucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase, Mutat. Res., 483, 89, 2001.
149. Beutler, E. and Gelbart, T., Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion, Hum. Mutat., 4, 212, 1994.
150. He, G.S. and Grabowski, G.A., Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA, Am. J. Hum. Genet., 51, 810, 1992.
151. Beutler, E. et al., Mutations in Jewish patients with Gaucher disease, Blood. 79, 1662, 1992.
152. Dominissini, S. et al., Charaterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by functional splicing assays, Hum. Mutat., 27, 119, 2006.
153. Romano, M. et al., Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I, Blood Cells Mol. Dis., 26, 171, 2000.
154. Ohshima, T. et al., A novel splicing abnormality in a Japanese patient with Gaucher’s disease, Hum. Mol. Genet., 2, 1497, 1993.
155. den Dunnen, J.T. and Antonarakis, S.E., Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion, Hum. Mutat., 15, 7, 2000.
156. Antonarakis, S.E., Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group, Hum. Mutat., 11, 1, 1998.
157. Maquat, L.E., When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells, RNA. 1, 453, 1995.
158. Filocamo, M. et al., Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease, Am. J. Med. Genet. A, 134, 95, 2005.
159. Filocamo, M. et al., Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making, Blood Cells Mol. Dis., 26, 611, 2000.
160. Reissner, K. et al., Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus, Mol. Genet. Metab., 63, 281, 1998.
161. Filocamo, M. et al., Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling, Blood Cells Mol. Dis., 26, 307, 2000.
162. Beutler, E. et al., Three Gaucher -disease-producing mutations in a patient with Gaucher disease: mechanism and diagnostic implications, Acta Haematol., 104, 103, 2000.
163. Church, H.J. et al., Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher’s disease with a hydropic phenotype, Eur. J. Hum. Genet., 12, 975, 2004.
164. Amaral, O. et al., Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin, Clin. Genet., 56, 100, 1999.
165. Masuno, M. et al., Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form, Hum. Genet., 84, 203, 1990.
166. Cormand, B. et al., Gaucher disease in Spanish patients: analysis of eight mutations, Hum. Mutat., 5, 303, 1995.