PMID: 9182788Jun 27, 1997Paper

Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses

American Journal of Medical Genetics
B CormandA Chabás

Abstract

Gaucher disease (GD) is a lysosomal storage disorder resulting from impaired activity of lysosomal beta-glucocerebrosidase. More than 60 mutations have been described in the GBA gene. They have been classified as lethal, severe, and mild on the basis of the corresponding phenotype. The fact that most GD patients are compound heterozygous and that most type 1 patients bear the N370S allele, which by itself causes a mild phenotype, make it difficult to correlate the clinical signs with the mutations. Besides N370S, about 10 mild mutations have been described, but only one undoubtedly classified as mild was found at homozygosity. Here we report 2 novel mutations, I402T and V375L, at homozygosity in 2 adult Italian type 1 GD patients. Some properties of the I402T fibroblast enzyme have been compared to those of the enzyme from cells of several N370S/N370S patients. Analysis of the catalytic properties and heat stability as well as the response to phosphatidylserine and sphingolipid activator protein indicate a marked similarity between the 2 enzymes. The finding of another, unrelated patient bearing the I402T mutation (in this case as a compound heterozygote with mutation N370S) suggests that this allele might be quite frequent in ...Continue Reading

References

Feb 1, 1992·American Journal of Medical Genetics·E SidranskyE I Ginns
Apr 1, 1992·Genomics·E BeutlerT Gelbart
Dec 24, 1990·Clinica Chimica Acta; International Journal of Clinical Chemistry·E BeutlerC West
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Jan 11, 1984·Nucleic Acids Research·J DevereuxO Smithies
Dec 16, 1995·Lancet·E BeutlerM Lipson
Nov 1, 1995·Medicine·D Balicki, E Beutler
Jan 1, 1995·Human Mutation·B CormandA Chabás
Mar 14, 1995·Biochimica Et Biophysica Acta·R F DollF I Smith
Jan 1, 1994·Human Mutation·M Horowitz, A Zimran
Mar 1, 1994·The Journal of Clinical Investigation·C E HollakJ M Aerts
Jan 1, 1994·Journal of Biosocial Science·A Rodríguez-LarraldeI Barrai
Oct 1, 1993·British Journal of Haematology·E Beutler, T Gelbart
Jan 1, 1993·Genomics·E BeutlerC West

❮ Previous
Next ❯

Citations

Sep 6, 2003·Journal of Clinical Microbiology·Márcia Susana N SilvaMaria Lucia R Rossetti
Jun 10, 2005·BMC Medical Genetics·Chun-An ChenWuh-Liang Hwu
Mar 5, 2002·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Natalia Garcia-GiraltDaniel Grinberg
Mar 18, 2011·Blood Cells, Molecules & Diseases·Kalia LavautArlet M Acanda
Apr 25, 2015·Annals of Clinical and Translational Neurology·Jun MitsuiShoji Tsuji
Sep 28, 2005·Blood Cells, Molecules & Diseases·Ernest BeutlerC Ronald Scott
Jun 6, 1998·Blood Cells, Molecules & Diseases·E Beutler, T Gelbart
Jul 23, 2008·Cephalalgia : an International Journal of Headache·E Cuenca-LeónB Cormand
Dec 18, 1998·American Journal of Medical Genetics·B CormandD Grinberg
Mar 3, 2004·American Journal of Medical Genetics. Part a·A ShamseddineM Z Habbal
Dec 12, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Raquel DuranTom Foltynie
Mar 14, 2008·Human Mutation·Kathleen S HruskaEllen Sidransky

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.