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Article

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

Human mutation - 1 Jan 1997

Drucker L, Golan A, Boles D J, el Bedour K, Proia R L, Navon R

Abstract excerpt

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...

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Identifiers

PMID: 9090529
DOI: 10.1002/(SICI)1098-1004(1997)9:3<260::AID-HUMU7>3.0.CO;2-B

Genes

HEXA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level.PMID 9090529Read ↗

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