PMID: 8950198Nov 15, 1996Paper

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype

Biochimica Et Biophysica Acta
I Redonnet-VernhetT Levade

Abstract

The molecular defects in the HEXB gene encoding the common beta-subunit of lysosomal beta-hexosaminidase A (beta-Hex A, alpha beta) and beta-Hex B (beta beta) were investigated in a Portuguese family affected with late onset Sandhoff disease (GM2-gangliosidosis variant 0). This family comprised two unaffected daughters and three affected sibs who developed at about age 17 cerebellar ataxia and mental deficiency. Their parents were consanguineous and clinically asymptomatic. There was no detectable beta-Hex B activity and a profound reduction in the activity of beta-Hex A in the leukocytes and transformed lymphoid cell lines from the affected sibs. The expected intermediate values were observed in the parents as well as in one daughter and her children. Western analysis revealed the presence of reduced, but detectable amounts of mature beta-chain protein in cell lysates from the probands and intermediate levels in the parents. Nucleotide sequencing of amplified, reverse-transcribed beta-chain mRNA demonstrated the presence of two single point mutations: an A619 to G transition in exon 5 (Ile207-->Val), and a G1514 to A transition in exon 13 (Arg505-->Gln). Both of these two mutations have been previously linked to the adult form...Continue Reading

References

Nov 27, 1991·Biochemical and Biophysical Research Communications·P BanerjeeG Dawson
Feb 22, 1991·Biochimica Et Biophysica Acta·D J Mahuran
Nov 1, 1990·The Journal of Clinical Investigation·K NeoteR A Gravel
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Apr 1, 1995·Human Molecular Genetics·Z X ZhangR A Gravel

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Citations

Apr 30, 1998·Journal of the Neurological Sciences·A HaraH Sakuraba
May 8, 1998·Molecular Medicine Today·C Chavany, M Jendoubi
Nov 26, 1999·Biochimica Et Biophysica Acta·D J Mahuran
Oct 7, 2014·Experimental Neurology·Allison M BradburyDouglas R Martin
Dec 17, 2014·European Journal of Medical Genetics·Ives T Villamizar-SchillerCarlos E Prada
Feb 15, 2014·Journal of Neuroscience Methods·Heather L Gray-EdwardsDouglas R Martin

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