Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level

Human Mutation

Volumn 9, Issue 3, 1997, Pages 260-264

  Drucker, Liat ^a,b   Golan, Agi ^c   Boles, Debra J ^d   Bedour, Khalil El ^c   Proia, Richard L ^d   Navon, Ruth ^a,b  

^a TEL AVIV UNIVERSITY   (Israel)

^b MEIR MEDICAL CENTER   (Israel)

^c BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^d NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

Author keywords

exon skipping; hexosaminidase A; mRNA quantitation; Tay Sachs disease

Indexed keywords

ARAB; ARTICLE; CASE REPORT; CHILD; CONSANGUINITY; DNA SEQUENCE; EXON; GENE AMPLIFICATION; GENE INSERTION; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TAY SACHS DISEASE;

ARABS; BASE SEQUENCE; BETA-N-ACETYLHEXOSAMINIDASE; CONSANGUINITY; DNA; DNA, COMPLEMENTARY; EXONS; FATAL OUTCOME; HOMOZYGOTE; HUMANS; INFANT; INTRONS; ISRAEL; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; RNA; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TAY-SACHS DISEASE; TRANSCRIPTION, GENETIC;

EID: 0030888787     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:3<260::AID-HUMU7>3.0.CO;2-B     Document Type: Article

References (11)

1. Akli S, Chelly J, Lacrte J-M, Poenaru L, Kahn A (1991) Ten novel mutations in the HEXA gene in non Jewish Tay-Sachs patients. Hum Mol Genet 2:61-67.
2. Boles DJ, Proia RL (1995) The molecular basis of HEXA mRNA instability caused by the most common Tay-Sachs disease mutation. Am J Hum Genet 56:716-724.
3. Bouaboula M, Legoux P, Pessegue B, Delpech B, Dumont X, Piechaczyk M, Casellas P, Shire D (1992) Standardization of mRNA titration using a polymerase chain reaction method involving co-amplification with multispecific internal control. J Biol Chem 267:22830-21838.
4. Chen I, Chasin LA (1993) Direct selection for mutations affecting specific splice sites in a hamster dihydrofolate reductase minigene. Mol Cel Biol 13:289-300.
5. Gravel RA, Clarke JTR, Kaback M.M, Mahuran D, Sandhoff K, Suzuki K (1995) In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw-Hill, pp 2839-2879.
6. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-45.
7. Moore MJ, Query CC, Sharp PH (1993) In Gesteland RF, Atkins JF (eds): The RNA World. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY: pp 303-358.
8. Robberson BL, Cote GJ, Berget SM (1990) Exon definition may facilitate splice site selection in RNAs with multiple exons. Mol Cel Biol 10:84-94.
9. 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.
10. 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.
11. Zhang Z, 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.