Ann Neurol. 1990 May;27(5):465-73.

A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.

Nakano T, Nanba E, Tanaka A, Ohno K, Suzuki Y, Suzuki K.

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Department of Neurology, University of North Carolina School of Medicine, Chapel Hill.

Abstract

A new point mutation within exon 5 of beta-hexosaminidase alpha subunit gene (guanine509----adenine; arginine170----glutamine) has been identified 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 beta-hexosaminidase alpha. 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.

PMID:: 2141777; [PubMed - indexed for MEDLINE]

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Cited by 6 PubMed Central articles

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A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant). [Am J Hum Genet. 1990]
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A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.

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