An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.
Tay-Sachs disease (TSD) results from a deficiency of beta-hexosaminidase A (EC 3.2.1.52) activity. A child with late-infantile TSD was found to have two HEXA mutations, 986 + 3A-->G (A-->G at the +3 position of intron 8) and 533G-->A, associated with the variant B1 form of TSD. We were able to detect exon 8-deleted, but no correctly spliced HEXA mRNA, from the non-533G-->A allele in this patient. This suggests that 986 + 3A-->G results in missplicing and, together with 533G-->A, TSD.
Richard
M M
MM
Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Canada.
Erenberg
G
G
Triggs-Raine
B L
BL
D000483:Alleles; D001483:Base Sequence; D002648:Child; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D006579:Heterozygote; D054818:Hexosaminidase A; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D017354:Point Mutation; D012326:RNA Splicing / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D013661:Tay-Sachs Disease / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
D017931:DNA Primers; D012333:RNA, Messenger; D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases