Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek- Cypriot case of Sandhoff disease

Human Mutation

Volumn 13, Issue 1, 1999, Pages 38-43

  Furihata, Kenichi ^a,d   Drousiotou, Anthi ^b   Hara, Yoji ^c   Christopoulos, George ^b   Stylianidou, Goula ^b   Anastasiadou, Violetta ^b   Ueno, Ichiro ^a   Ioannou, Panos ^b  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^c National Hospital Organization Matsumoto Medical Center Matsumoto Hospital   (Japan)

^d SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

Genetics; Mutation; Sandhoff disease; Splicing

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; BETA N ACETYLHEXOSAMINIDASE B; DNA; MESSENGER RNA;

ANIMAL CELL; ARTICLE; CASE REPORT; CHO CELL; CONTROLLED STUDY; CYPRUS; DNA SEQUENCE; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC TRANSCRIPTION; GREECE; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRON; LYMPHOCYTE; MALE; NONHUMAN; PRIORITY JOURNAL; RNA SPLICING; SANDHOFF DISEASE; STOP CODON;

BACTERIAL PROTEINS; BETA-N-ACETYLHEXOSAMINIDASE; CHILD; CYPRUS; CYTOSINE; DNA-BINDING PROTEINS; GUANOSINE; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMORPHISM, GENETIC; RNA SPLICING; SANDHOFF DISEASE;

ANIMALIA;

EID: 0032929378     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:1<38::AID-HUMU4>3.0.CO;2-S     Document Type: Article

References (13)

1. Hara Y, Ioannou P, Drousiotou A, Stylianidou G, Anastasiadou V, Suzuki K. 1994. Mutation analysis of a Sandhoff disease parient in the Maronite community in Cyprus. Hum Genet 94:136-140.
2. Kleiman FE, de Kremer RD, de Ramirez AO, Gravel RA, Argarana CE. 1994. Sandhoff disease in Argentina: High frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-hased tests for heterozygote detection. Hum Genet 94:279-282.
3. Kuroki Y, Itoh K, Nadaoka Y, Tanaka T, Sakuraba H. 1995. A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease. Biochem Biophys Res Commun 212:564-571.
4. Landels EC, Ellis IH, Bobrow M, Fensom AH. 1991. Tay-Sachs disease heterozygote detection: Use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates. J Med Genet 28:101-109.
5. McInnes B, Brown CA, Mahuran DJ. 1992. Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease. Biochim Biophys Acta 1138:315-317.
6. Neote K, McInnes B, Mahuran DJ, Gravel RA. 1990. Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. J Clin Invest 86:1524-1531.
7. Niwa H, Yamamura K, Miyazaki J. 1991. Efficient selection for high-expression transfectants with a novel eukaryotic vector. Gene 108:193-199.
8. O'Dowd BF, Klavins MH, Willard HF, Gravel R, Lowden JA, Mahuran DJ. 1986. Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis. J Biol Chem 261:12680-12685.
9. Pennybacker M, Liessem B, Moczall H, Tifft CJ, Sandhoff K, Proia RL. 1996. Identification of domains in human β-hexosaminidase that determine substrate specificity. J Biol Chem 271:17377-17382.
10. Pennybacker M, Schuette CG, Liessem B, Hepbildikler ST, Kopetka JA, Ellis MR, Myerowitz R, Sandhoff K, Proia RL. 1997. Evidence for the involvement of Glu-355 in the catalytic action of human β-hexosaminidase B. J Biol Chem 272:8002-8006.
11. Shapiro MB, Senapathy P. 1987. RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7174.
12. Wakamatsu N, Kobayashi H, Miyatake T, Tsuji S. 1992. A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3′ splice site selection. J Biol Chem 267: 2406-2413.
13. Zhang ZX, Wakamatsu N, Mules EH, Thomas GH, Gravel RA. 1994. Impact of premature stop codons on mRNA levels in infantile Sandhoff disease. Hum Mol Genet 3:139-145.