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

Liat Drucker, Agi Golan, Debra J. Boles, Khalil El Bedour, Richard L. Proia, Ruth Navon

Research output: Contribution to journalArticlepeer-review

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 17bp 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.

Original languageEnglish
Pages (from-to)260-264
Number of pages5
JournalHuman Mutation
Volume9
Issue number3
DOIs
StatePublished - 1997

Keywords

  • Tay-Sachs disease
  • exon skipping
  • hexosaminidase A
  • mRNA quantitation

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