A new point mutation within exon 5 of β‐hexosaminidase α gene in a Japanese infant with Tay‐Sachs disease

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Abstract
A new point mutation within exon 5 of β‐hexosaminidase α subunit gene (guanine509→adenine; arginine170→glutamine) has been indentified as being responsible for the typical clinical and enzymological phenotype of infantile Tay‐Sachs disease in a Japanese infant. Expression of the mutant enzyme protein in the COS I cell system indicated that it is catalytically inactive and also is unstable. The patient is a compound heterozygote, and the exact abnormality in the other allele could not be identified except that it is not any of the other nine known mutations of the βhexosaminidase α. The data collectively suggest that the other allele is not producing stable messenger RNA (mRNA). The rapidly increasing number of mutations responsible for clinical and enzymological phenotypes and the very large number of statistically possible combinations among them for compound heterozygosity pose a serious pragmatic problem for classification and nomenclature of this group of rare genetic disorders.