A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.
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Kuroki Y, Itoh K, Nadaoka Y, Tanaka T, Sakuraba H
A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.
Biochem Biophys Res Commun. 1995 Jul 17;212(2):564-71.
- PubMed ID
- 7626071 [ View in PubMed]
- Abstract
A novel missense mutation (1565G-->A) was identified in the cDNA and genomic DNA coding for the beta-hexosaminidase beta-subunit of a Japanese patient with infantile Sandhoff disease. The patient was homozygous for this mutation, which should result in a cysteine-to-tyrosine substitution at codon 522. Computer-assisted analysis of this amino acid substitution predicted alteration in the secondary structure in the region of a highly conserved sequence. An immunofluorescence study revealed the accumulation of GM2 ganglioside in cultured fibroblasts from the patient with this mutation.