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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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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 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.[1]

References

  1. Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene. Harmon, D.L., Gardner-Medwin, D., Stirling, J.L. J. Med. Genet. (1993) [Pubmed]
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