Mutation analysis of a japanese patient with fucosidosis

Journal of Human Genetics

Volumn 44, Issue 5, 1999, Pages 323-326

  Akagi, Motohiro ^a   Inui, Koji ^a   Nishigaki, Toshinori ^a   Muramatsu, Takashi ^a   Kokubu, Chikara ^a   Fu, Ling ^a   Fukushima, Hisao ^a   Yanagihara, Itaru ^a   Tsukamoto, Hiroko ^a   Kurahashi, Hiroki ^b   Okada, Shintaro ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b OSAKA UNIVERSITY   (Japan)

Author keywords

Fucosidosis; Japanese patient; Large deletion; Nonsense mutation

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; FEMALE; FUCOSIDOSIS; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; JAPAN;

ADOLESCENT; ALPHA-L-FUCOSIDASE; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CODON, TERMINATOR; EXONS; FEMALE; FUCOSIDOSIS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; JAPAN; MALE; MUTATION, MISSENSE; PHENOTYPE; SEQUENCE DELETION;

EID: 0032832547     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050169     Document Type: Article

References (23)

1. Ariyama T, Inazawa J, Ezaki T, Nakamura Y, Hori A, Abe T (1995) High-resolution cytogenetic mapping of the short arm of chromosome 1 with newly isolated 411 cosmid markers by fluorescence in situ hybridization: the precise order of 18 markers on 1p36.1 on prophase chromosomes and "stretched" DNAs. Genomics 25:114-123
2. Cragg H, Williamson M, Young E, O'Brien J, Alhadeff J, Fang-Kircher S, Paschke E, Winchester B (1997) Fucosidosis: genetic and biochemical analysis of eight cases. J Med Genet 34:105-110
3. Durand P, Borrone C, Della Cella G (1966) A new mucopolysaccharide lipid-sotrage disease? Lancet II:1313-1314
4. Fleming CJ, Sinclair DU, White EJ, Winchester B, Whiteford ML, Connor JM (1998) A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the α-fucosidase gene. J Inher Metab Dis 21:688-689
5. Fukushima H, de Wet JR, O'Brien JS (1985) Molecular cloning of a cDNA for human α-L-Fucosidase. Proc Natl Acad Sci USA 82:1262-1265
6. Fukushima H, Nishimoto J, Okada S (1990) Sequencing and expression of full-length cDNA for human α-L-Fucosidase. J Inher Metab Dis 13:761-765
7. Honjoh M, Yamaguchi S, Kohda N, Mori Y, Nishimura H (1985) Fucosidosis type 3 with angiokeratoma corporis diffusum. J Dermatol 12:174-182
8. Ikeda S-I, Kondo K, Oguchi K, Yanagisawa N, Horigome R, Murata F (1984) Adult fucosidosis: histochemical and ultrastructural studies of rectal mucosa biopsy. Neurology 34:451-456
9. Kretz KA, Cripe D, Carson GS, Fukushima H, O'Brien JS (1992) Structure and sequence of the human α-L-Fucosidase gene and pseudogene. Genomics 12:276-280
10. Matsuda I, Arashima S, Anakura M, Ege A, Hayata I (1973) Fucosidosis. Tohoku J Exp Med 109:41-48
11. Seo H-C, Willems PJ, Kretz KA, Martin BM, O'Brien JS (1993a) Fucosidosis: four new mutations and a polymorphism. Hum Mol Genet 2:423-429
12. Seo H-C, Williems PJ, O'Brien JS (1993b) Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations. Hum Mol Genet 2:1205-1208
13. Seo H-C, Kunze J, Williems PJ, Kim AH, Hanefeld, O'Brien JS (1994a) A single-base with fucosidosis deletion mutation in a Turkish patient with fucosidosis. Hum Mutation 3:407-408
14. Seo H-C, Yang M, Tonlorenzi R, Williems PJ, Kim AH, Filocamo M, Gatti R, DiCioccio RA, O'Brien JS (1994b) A missense mutation (S63L) in α-L-fucosidase is responsible for fucosidosis in an Italian patient. Hum Mol Genet 3:2065-2066
15. Seo H-C, Heidemann PH, Lutz E, O'Brien JS (1995) A nonsense mutation in two German patients with fucosidosis. Hum Mutation 6:184-185
16. Seo H-C, Yang M, Kim AH, O'Brien JS, DiCioccio RA, Gordon BA (1996) A 66-basepair insertion in exon 6 of the α-L-fucosidase gene of a fucosidosis patient. Hum Mutation 7:183
17. Thomas GH, Beaudet AL (1995) Fucosidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 7th edn. McGraw Hill, pp 2539-2542
18. Willems PJ, Garcia CA, de Smedt MCH, Martin-Jimenez R, Darby JK, Duenas DA, Granado-Villar D, O'Brien JS (1988) Intrafamilial variability in fucosidosis. Clin Genet 34:7-14
19. Willems PJ, Gatti R, Darby JK, Romeo G, Durand P, Dumon JE, O'Brien JS (1991) Fucosidosis revisited: a review of 77 patients. Am J Med Genet 38:111-131
20. Williamson M, Cragg H, Grant J, Kretz K, O'Brien J, Willems PJ, Young E, Winchester B (1993) A 5′ splice site mutation in fucosidosis. J Med Genet 30:218-223
21. Yang M, Allen H, DiCioccio RA (1992) A mutation generating a stop codon in the gene of a fucosidosis patient. Biochem Biophys Res Commun 189:1063-1068
22. Yang M, Allen H, DiCioccio RA (1993) Pedigree analysis of α-L-fucosidase gene mutations in a fucosidosis family. Biochim Biophys Acta 1182:245-249
23. Yang M, DiCioccio RA (1994) A Gln-281 to Arg substitution in a-L-fucosidase is responble for a common polymorphism detected by isoelectric focusing. Hum Genet 93:597-599