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

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

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^*

^*Corresponding author for this work

Human Molecular Genetics Biochemistry

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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 language	English
Pages (from-to)	260-264
Number of pages	5
Journal	Human Mutation
Volume	9
Issue number	3
DOIs	https://doi.org/10.1002/(SICI)1098-1004(1997)9:3<260::AID-HUMU7>3.0.CO;2-B
State	Published - 1997

Keywords

Tay-Sachs disease
exon skipping
hexosaminidase A
mRNA quantitation

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

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

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.",

keywords = "Tay-Sachs disease, exon skipping, hexosaminidase A, mRNA quantitation",

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year = "1997",

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AU - Drucker, Liat

AU - Golan, Agi

AU - Boles, Debra J.

AU - Bedour, Khalil El

AU - Proia, Richard L.

AU - Navon, Ruth

PY - 1997

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AB - 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.

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KW - hexosaminidase A

KW - mRNA quantitation

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

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Keywords

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