The E326K mutation and Gaucher disease: mutation or polymorphism?

Clinical Genetics
J K ParkEllen Sidransky

Abstract

Gaucher disease is caused by mutations in the gene for human glucocerebrosidase, a lysosomal enzyme involved in the intracellular hydrolysis of glucosylceramide. While over 150 different glucocerebrosidase mutations have been identified in patients with Gaucher disease, not all reported mutations have been fully characterized as being causative. One such mutation is the E326K mutation, which results from a G to A nucleotide substitution at genomic position 6195 and has been identified in patients with type 1, type 2 and type 3 Gaucher disease. However, in each instance, the E326K mutation was found on the same allele with another glucocerebrosidase mutation. Utilizing polymerase chain reaction (PCR) screening and restriction digestions of both patients with Gaucher disease and normal controls, we identified the E326K allele in both groups. Of the 310 alleles screened from patients with Gaucher disease, the E326K mutation was detected in four alleles (1.3%). In addition, screening for the E326K mutation among normal controls from a random population revealed that three alleles among 316 screened (0.9%) also carried the E326K mutation. In the normal controls with the E326K allele, the glucocerebrosidase gene was completely sequen...Continue Reading

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Citations

Apr 29, 2010·Current Neurology and Neuroscience Reports·Arash VelayatiEllen Sidransky
May 27, 2005·Blood Cells, Molecules & Diseases·Idit RonMia Horowitz
Jan 20, 2004·Molecular Genetics and Metabolism·Alicia LwinEllen Sidransky
Oct 23, 2009·The New England Journal of Medicine·E SidranskyS G Ziegler
May 23, 2015·The International Journal of Neuroscience·Fabin HanDennis E Bulman
Oct 1, 2015·Molecular Genetics and Metabolism·Maria Francisca Coutinho, Sandra Alves
Aug 22, 2015·Movement Disorders : Official Journal of the Movement Disorder Society·Ignacio F MataCyrus P Zabetian
Jan 18, 2012·Medicina clínica·Pilar Alfonso Palacín, Miguel Pocoví
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Jul 12, 2011·Molecular Genetics and Metabolism·Jae Hyuk ChoiEllen Sidransky
Jan 10, 2012·Molecular Genetics and Metabolism·Benjamin Liou, Gregory A Grabowski
Aug 13, 2011·Molecular Genetics and Metabolism·Mia HorowitzEdwin H Kolodny
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Apr 19, 2020·Journal of Neurology, Neurosurgery, and Psychiatry·Thomas B StokerCaroline H Williams-Gray
Jul 3, 2021·Genes·Jacob Oliver Day, Stephen Mullin

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