Work

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

Year: 1997

Type: article

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.

Source: Human Mutation

DOI: 10.1002/(sici)1098-1004(1997)9:3<260::aid-humu7>3.0.co;2-b

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