Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level
✍ Scribed by Liat Drucker; Agi Golan; Debra J. Boles; Khalil El Bedour; Richard L. Proia; Ruth Navon
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 145 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
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.