Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form

Journal of Human Genetics

Volumn 48, Issue 11, 2003, Pages 571-574

  Tanaka, Akemi ^a   Hoang, Lan Thi Ngcok ^a   Nishi, Yasuaki ^a   Maniwa, Satoshi ^b   Oka, Makio ^c   Yamano, Tsunekazu ^a  

^a OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b MATSUYAMA RED CROSS HOSPITAL   (Japan)

^c OKAYAMA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

GM2 gangliosidosis; Infantile acute form; Japanese; Juvenile form; Late infantileform; Tay Sachs disease

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; GENOMIC DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; ETHNIC GROUP; FIBROBLAST CULTURE; GANGLIOSIDOSIS; GENE MUTATION; GM2 GANGLIOSIDOSIS; HUMAN; HUMAN CELL; INFANT; JAPAN; PHENOTYPE; TAY SACHS DISEASE;

ACUTE DISEASE; ASIAN CONTINENTAL ANCESTRY GROUP; BETA-N-ACETYLHEXOSAMINIDASE; CHILD; CODON; FEMALE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PHENOTYPE; TAY-SACHS DISEASE;

EID: 0346881529     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-003-0080-9     Document Type: Article

References (17)

1. Akli S, Chomel J-C, Lacorte J-M, Bachner L, Poenaru L, Kahn A (1993) Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. Hum Mol Genet 2:61-67
2. Arpaia E, Dumbrille-Ross A, Maler T, Neote K, Tropk M, Troxel C, Stirling JL, Pitts JS, Bapat B, Lamhonwah AM, Mahuran DJ, Schuster SM, Clarke JTR, Lowden JA, Gravel RA (1988) Identification of an altered splice site in Ashkenazi Tay-Sachs disease. Nature 333:85-86
3. Gravel RA, Kaback MM, Proia RL, Sandhoff K, Suzuki K, Suzuki Kuni (2001) The GM2 gangliosidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds, the Metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill: New York, pp 3827-3876
4. Matsuzawa F, Aikawa S, Sakuraba H, Tanaka A, Hoang TNL, Ohno K, Ninomiya H, Sugimoto Y, Doi H (2003) Structural basis of the GM2 gangliosidosis B variant. J Hum Genet (in press) DOI 10.1007/s10038-003-0082-7
5. Mules EH, Hayflick S, Miller CS, Reynolds LW, Thomas GH (1992) Six novel deleterious and three neutral mutations in the gene encoding the α-subunit of hexosaminidase A in non-Jewish individuals. Am J Hum Genet 50:834-841
6. Myerowitz R (1988) Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: Evidence against a single defect within this ethnic group. Proc Natl Acad Sci USA 85:3955-3959
7. Myerowitz R, Costigan FC (1988) The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the α-chain of β-hexosaminidase. J Biol Chem 263:18587-18589
8. Myerowitz R, Hogikyan ND (1986) A deletion involving alu sequences in the β-hexosaminidase α-chain gene of French Canadians with Tay-Sachs disease. J Biol Chem 262:15396-15399
9. Myerowitz R, Piekarz R, Neufeld EF, Shows TB, Suzuki K (1985) Human β-hexosaminidase α chain: Cloning sequence and homology with the β chain. Proc Natl Acad Sci USA 82:7830-7834
10. Ohno K, Suzuki K (1988) A splicing defect due to an exon-intron junctional mutation results in abnormal β-hexosaminidase α chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease. Biochem Biophys Res Commun 153:463-469
11. Paw BH, Moskowitz SM, Uhrhammer N, Wright N, kaback MK, Neufeld EF (1990) Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the α-subunit of β-hexosaminidase. J Biol Chem 265:9452-9457
12. Ribeiro MG, Sonin T, Pinto RA, Fontes A, Ribiero H, Pinto E, Palmeira MM, Sa Miranda MC (1996) Clinical, enzymatic, and molecular characterization of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant. J Med Genet 33:341-343
13. Suzuki K (1987) Enzymatic diagnosis of sphingolipidosis. Methods Enzymol 138:727-762
14. Tanaka A, Sakuraba H, Isshiki G, Suzuki K (1993) The major mutation among Japanese patients with infantile Tay-Sachs disease: A G-to-T transversion at the acceptor site of intron 5 of the β-hexosaminidase α gene. Biochem Biophys Res Comm 192:539-546
15. Tanaka A, Sakazaki H, Murakami H, Isshiki G, Suzuki K (1994) Molecular genetics of Tay-Sachs disease in Japan. J Inher Metab Dis 17:593-600
16. Tanaka A, Fujimaru M, Choeh K, Isshiki G (1999) Novel mutations including the second most common in Japan in the β-hexosaminidase α subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease, J Hum Genet 44:91-95
17. Triggs-Raine BL, Akerman BR, Clarke JTR, Gravel RA (1991) Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. Am J Hum Genet 49:1041-1054