Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene
We have identified two new point mutations in the beta-hexosaminidase alpha subunit (HEX A) gene in a non-Jewish Tay-Sachs disease patient with an unusual late infantile onset disease phenotype. The patient was a compound heterozygote with each allele of the HEX A gene containing a different mutatio...
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Veröffentlicht in: | Journal of medical genetics 1993-02, Vol.30 (2), p.123-128 |
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Sprache: | eng |
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Zusammenfassung: | We have identified two new point mutations in the beta-hexosaminidase alpha subunit (HEX A) gene in a non-Jewish Tay-Sachs disease patient with an unusual late infantile onset disease phenotype. The patient was a compound heterozygote with each allele of the HEX A gene containing a different mutation in exon 1. One of these is a T to C transition in the initiation codon, expected to produce no alpha subunit and therefore a classical infantile phenotype. The unusual clinical aspects and later onset in the patient must therefore be a result of residual hexosaminidase A activity associated with a mutant alpha subunit containing the second mutation, substitution of serine for proline at amino acid 25 owing to a C to T change at nucleotide 73. Western blotting and DE-52 ion exchange chromatography have been used to examine the behaviour of this mutant alpha subunit. |
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ISSN: | 0022-2593 1468-6244 1468-6244 |
DOI: | 10.1136/jmg.30.2.123 |