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 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 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

Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia

2009 ◽  
Vol 39 (9) ◽  
pp. 1006-1009 ◽  
Author(s):  
Andres H. Pena ◽  
Paige Kaplan ◽  
Jaya Ganesh ◽  
Egor Clevac ◽  
Anne Marie Cahill
Keyword(s):  
Gaucher Disease ◽  
Severe Thrombocytopenia ◽  
Partial Splenic Embolization ◽  
Massive Splenomegaly ◽  
Splenic Embolization

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
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