Related Experiment Videos
Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level
L Drucker1, A Golan, D J Boles
1Department of Human Genetics, Sackler School of Medicine, Tel-Aviv University, Israel.
Human Mutation
|January 1, 1997
Abstract:
An Israeli-Bedouin infant from a consanguineous family was diagnosed with Tay-Sachs disease (TSD). The patient was found to carry the novel +3tIVS4 mutation in homozygosity. Direct sequencing of the cDNA showed that the +3tIVS4 mutation caused complete skipping of exon 4 resulting in a stop codon 17 bp downstream. We postulate that the insertion disrupts base pairing between the consensus sequence and U1 snRNA causing exon skipping. The resultant transcript contains a premature termination codon and is severely reduced in amount. An extended nucleotide portion of the 5' end of IVS4 was sequenced.