scholarly journals Analysis of mutations in GBA gene in Ukrainian patients with Gaucher disease

2017 ◽  
Vol 33 (1) ◽  
pp. 34-47
Author(s):  
N. V. Olkhovych ◽  
A. M. Nedoboy ◽  
N. O. Pichkur ◽  
N. H. Gorovenko
Keyword(s):  
Gaucher Disease ◽  
Gba Gene

scholarly journals A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

2020 ◽  
Vol 8 (3) ◽  
Author(s):  
Anna Malekkou ◽  
Ioanna Sevastou ◽  
Gavriella Mavrikiou ◽  
Theodoros Georgiou ◽  
Lluisa Vilageliu ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Gba Gene

Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype

2015 ◽  
Vol 167 (11) ◽  
pp. 2858-2860 ◽  
Author(s):  
Shagun Aggarwal ◽  
S. Jamal Mohamed Nurul Jain ◽  
Aneek D. Bhowmik ◽  
Ashwani Tandon ◽  
Ashwin Dalal
Keyword(s):  
Gaucher Disease ◽  
Molecular Studies ◽  
Gba Gene

Determining the frequency of common mutations in the GBA gene in patients with Gaucher disease in Ukraine

2007 ◽  
Vol 41 (4) ◽  
pp. 230-236
Author(s):  
N. G. Gorovenko ◽  
N. V. Ol’khovich ◽  
A. M. Nedoboy ◽  
N. O. Pichkur
Keyword(s):  
Gaucher Disease ◽  
Gba Gene

scholarly journals Splenomegaly, Cardiomegaly, and Osteoporosis in a Child with Gaucher Disease

2011 ◽  
Vol 2011 ◽  
pp. 1-4
Author(s):  
J. J. Sheth ◽  
C. M. Ankleshwaria ◽  
M. A. Mistri ◽  
N. Nanavaty ◽  
S. J. Mehta
Keyword(s):  
Gaucher Disease ◽  
Molecular Study ◽  
Carrier Status ◽  
Pulmonary Congestion ◽  
Severe Osteoporosis ◽  
Massive Splenomegaly ◽  
Heterozygous Condition ◽  
Chorionic Villi ◽  
Gba Gene ◽  
Reduced Activity

A 15-month-old girl, born to the consanguineous parents, was referred with the sign of massive splenomegaly associated with thrombocytopenia and anemia. Plasma Chitotriosidase estimation was carried out as a screening test and was found to be normal with reduced activity ofβ-glucosidase in leucocytes suggestive of Gaucher disease. At the age of 4 years, severe osteoporosis and cardiomegaly with pulmonary congestion were observed in the child. Molecular analysis for GBA gene has revealed homozygous status for L444P (c.1448C) in the proband, whereas parents and two elder sisters were found to be heterozygote. Prenatal study during the fourth pregnancy was carried out from cultured chorionic villi forβ-glucosidase, which was in the carrier range. Further confirmation of the carrier status was carried out from amniotic fluid DNA and was found to be heterozygous for L444P (c.1448C) in theGBAgene. This case demonstrates that children with the sign of splenomegaly with anemia and thrombocytopenia need to be screened for Gaucher disease, and molecular study can further help to confirm the heterozygous status, where prenatal study by enzyme investigation demonstrate heterozygous condition.

scholarly journals Identification of GBA Gene Mutations in 19 Pakistani Unrelated Patients of Gaucher Disease

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4952-4952 ◽  
Author(s):  
Arshi Naz ◽  
Qurat Abedin ◽  
Shariq Ahmed ◽  
Saima Siddiqui ◽  
Tahir Shamsi
Keyword(s):  
Bone Marrow ◽  
Genetic Analysis ◽  
Gene Mutation ◽  
Gaucher Disease ◽  
Conflicts Of Interest ◽  
Demographic Data ◽  
White Blood Cells ◽  
Bone Marrow Morphology ◽  
Number Of Patients ◽  
Gba Gene

Abstract Introduction: Gaucher disease (GD) is one of the lysosomal storage diseases that is rare and inherited autosomal recessively. There is insufficiency of glucocerebrosidase enzyme that leads to the build up of un-degraded substrates in white blood cells causing anemia, hepatosplenomegaly and skeletal disease. This enzyme deficiency is linked with the defect of its gene (GBA) that codes for this enzyme. Initial diagnosis is made by the estimation of glucocerebrosidase level in blood and confirmed by genetic analysis of GBA gene. To identify the mutations of GBA gene in Pakistani patients with GD from different regions of Pakistan. Sampling & methodology: The sample and demographic data was collected in National Institute of Blood Disease and Bone marrow Transplantation after approval of IRB and written informed consent of patients. We collected total 19 blood samples, out of which 5 had Gaucher's disease, 10 samples were parents of the index cases and 4 were control. The methodology consisted of DNA extraction and quantification from peripheral blood. Genetic analysis of coding regions of GBA gene was done via gene amplification, gel electrophoresis and sequencing. Result: Mutation was found in two out of five families that makes the prevalence of GBA gene mutation 40%. These were diagnosed on reduced enzyme levels and found to have L444P (c.1448T>C) mutation in homozygous form in 10th exon of GBA gene. The parents of that patient carried the same mutation in one allele. Rest of the patients who were diagnosed on bone marrow morphology showed no mutation in GBA gene. Conclusion: Our results illustrate that GBA gene mutation was found in those patients who were diagnosed by the estimation of β-glucosidase enzyme levels rather than on bone marrow morphology. In our population, the mutation L444P was found, which is the most frequent gene mutation found in the world. Since this study is conducted in a small number of patients therefore it is recommended that large cohorts of patients should be evaluated in future for genetic mutations among Gaucher's patients in Pakistan Key words: Gaucher disease, storage disorder, GBA gene Disclosures No relevant conflicts of interest to declare.

Thrombocytopenia and GBA gene mutation in a patient with adult type 1 Gaucher disease

Platelets ◽  
2017 ◽  
Vol 28 (8) ◽  
pp. 829-831
Author(s):  
Lagen Wan ◽  
Hong Wu ◽  
Fuyuan Xie ◽  
Yijun Nie
Keyword(s):  
Gene Mutation ◽  
Gaucher Disease ◽  
Adult Type ◽  
Gba Gene ◽  
Type 1 Gaucher Disease

scholarly journals Molecular Characterization of the GBA Gene in Patients from Southwest of Colombia with Gaucher Disease

2021 ◽  
Vol 9 ◽  
Author(s):  
Daniela Arturo Terranova ◽  
Lina Johanna Moreno Giraldo ◽  
Henry Idrobo ◽  
José María Satizabal
Keyword(s):  
Molecular Characterization ◽  
Gaucher Disease ◽  
Gba Gene

scholarly journals Identification of novel mutations in glucocerebrosidase (GBA) gene in Indian patients with gaucher disease (GD)

2014 ◽  
Vol 7 (Suppl 1) ◽  
pp. P52 ◽  
Author(s):  
Chitra Ankleshwaria ◽  
Jayesh Sheth ◽  
Mehul Mistri ◽  
Ashish Bavdekar ◽  
Sheela Nampoothiri ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutations ◽  
Indian Patients ◽  
Gba Gene

scholarly journals Screening for patients with Gaucher’s disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) study

2021 ◽  
Author(s):  
Tim Reynolds ◽  
Anthony Wierzbicki ◽  
Volha Skrahina ◽  
Christian Beetz
Keyword(s):  
Alkaline Phosphatase ◽  
Gaucher Disease ◽  
Clinical Biochemistry ◽  
Mean Value ◽  
Time Interval ◽  
Pathogenic Variants ◽  
Gba Gene ◽  
The Mean ◽  
Laboratory Biomarkers

Aims: Lysosomal β-glucocerebrosidase (GBA) deficiency causes Gaucher disease (GD), a recessive disorder caused by bi-allelic mutations in GBA. The prevalence of GD is associated with ethnicity, but largely unknown and potentially underestimated in many countries. GD may manifest with organomegaly, bone involvement and neurological symptoms as well as abnormal laboratory biomarkers. This study attempted to screen for GD in patients using abnormal platelet, alkaline phosphatase (ALP) and ferritin results from laboratory databases. Methods: Electronic laboratory databases were interrogated using a 2-4 year time interval to identify from clinical biochemistry records patients with a phenotype of reduced platelets (<150x109/L) and either elevated ALP (>130iu/L) or ferritin (>150 (female) or >250µg/L(male)). The mean value over the screening window was used to reduce variability in results. A dried blood spot sample was collected for the determination of GBA activity in patients meeting these criteria. If low GBA activity was found then the concentration of the GD-specific biomarker glucosyl-sphingosine (lyso-GB1) was assayed, and the GBA gene sequenced. Results: Samples were obtained from 1058 patients; 232 patients had low GBA activity triggering further analysis. No new cases of GD with homozygosity for pathogenic variants were identified but 12 patients (1%) were identified to be carriers of a pathogenic variant in GBA. Conclusions: Pathology databases hold routine information that can be used to screen for patients with inherited errors of metabolism. However, biochemical screening using mean platelets, ALP and ferritin has a low yield for unidentified cases of Gaucher Disease.

Biomarkers of Parkinson’s disease in carriers of mutations in the glucocerebrosidase gene

2020 ◽  
pp. 87-89
Author(s):  
С.Н. Пчелина ◽  
М.А. Николаев ◽  
А.Э. Копытова ◽  
Г.В. Байдакова ◽  
К.А. Сенкевич ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Gaucher Disease ◽  
Control Group ◽  
Macrophage Culture ◽  
Primary Macrophage ◽  
Mutation Carriers ◽  
Glucocerebrosidase Gene ◽  
Gba Gene ◽  
Gba Mutations

Оценка гексозилсфингозина (HexSph), в крови в настоящее время является чувствительным диагностическим тестом развития болезни Гоше. Мы предположили, что оценка данного метаболита может быть эффективна при выявлении развития болезни Паркинсона (БП) у носителей мутаций в гене GBA (GBA-БП). Концентрация HexSph и ферментативная активность GBA была оценена у пациентов с GBA-БП, бессимптомных носителей мутации в гене GBA, пациентов со спорадической БП (сБП) и в контрольной группе в крови, а также в первичной культуре культивируемых макрофагов. Показано, что оценка уровня HexSph в первичной культуре макрофагов позволяет отличить заболевших БП носителей мутаций в гене GBA, от бессимптомных носителей мутаций и может быть рассмотрена как биомаркер развития БП у носителей мутаций в гене GBA. Assessment of hexosylsphingosine (HexSph) in the blood is currently a sensitive diagnostic test for Gaucher disease. We suggested that the assessment of this metabolite may be effective in detecting the development of Parkinson’s disease (PD) in mutation carriers in the GBA gene (GBA-PD). In the present study HexSph concentration and GBA enzymatic activity were evaluated in patients with GBA-BP, asymptomatic carriers of GBA mutations, patients with sporadic PD (sPD) and the control group in blood, as well as in the primary culture of macrophages. An assessment of HexSph level in the primary macrophage culture makes it possible to distinguish GBA mutation carriers with PD from asymptomatic mutation carriers, and though could be considered as a biomarker of PD development in carriers of GBA mutations.

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