title: A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.
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.
authors.affiliation: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroki
authors.forename: K
authors.initials: K
authors.lastname: Itoh
authors.forename: Y
authors.initials: Y
authors.lastname: Nadaoka
authors.forename: T
authors.initials: T
authors.lastname: Tanaka
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
mesh_terms: D001483:Base Sequence; D003062:Codon; D003241:Consanguinity; D017124:Conserved Sequence; D003545:Cysteine; D004252:DNA Mutational Analysis; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005455:Fluorescent Antibody Technique; D005678:G(M2) Ganglioside / Q000378:metabolism; D006801:Humans; D007223:Infant; D007564:Japan; D008969:Molecular Sequence Data; D009154:Mutation; D017433:Protein Structure, Secondary; D012497:Sandhoff Disease / Q000201:enzymology / Q000235:genetics*; D014443:Tyrosine; D001619:beta-N-Acetylhexosaminidases / Q000737:chemistry / Q000235:genetics*
chemical_list: D003062:Codon; D005678:G(M2) Ganglioside; D014443:Tyrosine; D001619:beta-N-Acetylhexosaminidases; D003545:Cysteine