A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease

Molecular and Cellular Probes

Volumn 15, Issue 2, 2001, Pages 75-79

  Gomez Lira, M ^a   Mottes, M ^a   Perusi, C ^a   Pignatti, P F ^a   Rizzuto, N ^a   Gatti, R ^b   Salviati, A ^a  

^a UNIVERSITY OF VERONA   (Italy)

^b G GASLINI INSTITUTE   (Italy)

Author keywords

Infantile Sandhoff disease; Mutation; Stop codon

Indexed keywords

MESSENGER RNA;

ARTICLE; CASE REPORT; EXON; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; HETERODUPLEX ANALYSIS; HUMAN; INFANT; MOLECULAR CLONING; PRIORITY JOURNAL; SANDHOFF DISEASE; STOP CODON;

EID: 0035046875     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcpr.2000.0342     Document Type: Article

References (17)

1. The lysosomal hexosaminidase isozymes
2. Structure and distribution of an Alu-type deletion mutation in Sandhoff disease
3. An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial background
4. Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff Disease
5. Impact of premature stop codon on mRNA levels in infantile Sandhoff disease
6. Juvenile spinal muscular atrophy: A new hexosaminidase deficiency phenotype
7. Extraction of RNA with guanidinium thiocyanate followed by centrifugation in cesium chloride solutions
8. Isolation of cDNA clones coding for the β subunit of human β-hexosaminidase
9. Two mutations produce intron insertion in mRNA and elongated beta-subunit of human betahexosami nidase
10. A common β-hexosaminidase gene mutation in adult Sandhoff disease patients
11. A novel exon mutation in the human β-hexosaminidase β subunit gene affects 3′ splice site selection
12. Two small deletions of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease
13. New amber mutation in a β-thalassemic gene with non measurable levels of mutant messenger RNA in vivo
14. Non-sense mutations in the human β-globin gene affect mRNA metabolism
15. Premature translation termination mediates triosephosphate isomerase mRNA degradation
16. Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains
17. Non-sense codon in human β-globin mRNA result in the production of mRNA degradation products