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Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease

✍ Scribed by Liat Drucker; Jesaiachu Armand Hemli; Ruth Navon

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
203 KB
Volume
10
Category
Article
ISSN
1059-7794

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✦ Synopsis

Two affected HEXA alleles were found in an Israeli Druze Tay-Sachs child born to first-cousin parents. His paternal allele contained two adjacent changes in exon 5: a496C, which resulted in a frameshift and premature termination codon 96 nucleotides downstream, and 498CÃG, a silent mutation. The maternal allele had a 835TÃC transition in exon 8 (S279P). Phosphoimaging quantitation of the parents' RNAs showed that the steady-state levels of mRNAs of the mutant exons 5 and 8 were 5% and 50%, respectively, of normal levels. The exon 5 mutated allele with the premature translation termination resulted in severe deficiency of Hex A. Transient expression of the exon 8 mutated ~-chain cDNA in COS-1 cells resulted in deficiency of enzymatic activity. The child exhibited a late-infantile-type disease.

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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