Novel GLA gene mutations in two Chinese families with classic Fabry disease

Chinese Journal of Medical Genetics

Volumn 22, Issue 5, 2005, Pages 489-492

  Wang, Zhao Xia ^a   Zhang, Ying ^a   Bu, Ding Fang ^a   Zhang, Wei ^a   Yuan, Yun ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

Fabry disease; GLA gene; Mutation

Indexed keywords

ALANINE; CYSTEINE; GENOMIC DNA; PROLINE; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; DNA EXTRACTION; EXON; FABRY DISEASE; FEMALE; GENE; GENE MUTATION; GLA GENE; HETEROZYGOTE; HUMAN; INTRON; LEUKOCYTE; LIMB PAIN; MALE; MISSENSE MUTATION; PEDIGREE; PHENOTYPE; X CHROMOSOME DOMINANT INHERITANCE; X CHROMOSOME INACTIVATION;

ADOLESCENT; ALPHA-GALACTOSIDASE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; FABRY DISEASE; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 27144505749     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA, 1999, 281:249-254.
2. Peters FP, Vermeulen A, Kho TL. Anderson-Fabry's disease: alpha-galactosidase deficiency. Lancet, 2001, 357:138-140.
3. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet, 2001, 38:750-760.
4. Whybra C, Kampmann C, Willers I, et al. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis, 2001, 24:715-724.
5. Zhang W, Yuan Y, Yang YL, et al. Vascular changes in Fabry disease. Chin J Neurol, 2003, 36:48-50.
6. Hasholt L, Sorensen SA, Wandall A, et al. A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations. J Med Genet, 1990, 27:303-306.
7. Baehner F, Kampmann C, Whybra C, et al. Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. J Inherit Metab Dis, 2003, 26:617-627.
8. Hopkin RJ, Bissler JG. Comparative evaluation of [alpha]-galactosidase A infusions for treatment of Fabry disease. Genet Med, 2003, 5:144-153.
9. Ogawa K, Sugamata K, Funamoto N, et al. Restricted accumulation of globotriaosylceramide in the hearts of atypical cases of Fabry's disease. Hum Path, 1990, 21:1067-1073.
10. Elleder M, Bradova V, Smid F, et al. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease: report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A, 1990, 417: 449-455.
11. Eng CM, Resnick-Silverman LA, Niehaus DJ, et al. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet, 1993, 53:1186-1197.
12. Sakuraba H, Oshima A, Fukuhara Y, et al. Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet, 1990, 47:784-789.
13. Pastores GM, Lien YH. Biochemical and molecular genetic basis of Fabry disease. J Am Soc Nephrol, 2002, 13(suppl 2):S130-133.
14. Ishii S, Sakuraba H, Suzuki Y. Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease. Hum Genet, 1992, 89:29-32.
15. Branton MH, Schiffmann R, Sabnis SG, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine, 2002, 81:122-138.
16. Heltianu C, Costache G, Azibi K, et al. Endothelial nitric oxide synthase gene polymorphisms in Fabry's disease. Clin Genet, 2002, 61:423-429.
17. Novo FJ, Krusewski A, MacDermot KD, et al. Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion. Nucleic Acids Res, 1995, 23:2636-2640.
18. Chen CH, Shyu PW, Wu SJ, et al. Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Hum Mutat, 1998, 11:328-330.
19. Yang CC, Lai LW, Whitehair O, et al. Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease. Clin Genet, 2003, 63:205-209.
20. Lam CW, Mak YT, Lo YM, et al. Molecular genetic analysis of a Chinese patient with Fabry disease. Chin Med J(Engl), 2000, 113:186-188.
21. Han ZY, Zhang KX, Zhang MF, et al. Molecular Genetic Analysis of a Hypertensive Family with Atypical Fabry Disease. Chin J Hypertens, 2003, 11:423-426.