Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family

2004 ◽  
Vol 125A (3) ◽  
pp. 257-260 ◽  
Author(s):  
A. Shamseddine ◽  
A. Taher ◽  
S. Fakhani ◽  
M. Zhang ◽  
C. Ronald Scott ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation

scholarly journals Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test

2021 ◽  
Vol 22 (11) ◽  
pp. 5538
Author(s):  
Stefania Zampieri ◽  
Silvia Cattarossi ◽  
Eleonora Pavan ◽  
Antonio Barbato ◽  
Agata Fiumara ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Molecular Diagnosis ◽  
Gaucher Disease ◽  
Novel Mutation ◽  
Large Deletion ◽  
Clinical Exome Sequencing ◽  
Number Variation ◽  
Long Range Pcr ◽  
Set Up ◽  
Beta Glucosidase

Gaucher disease (GD) is an autosomal recessive lysosomal disorder due to beta-glucosidase gene (GBA) mutations. The molecular diagnosis of GD is complicated by the presence of recombinant alleles originating from a highly homologous pseudogene. Clinical exome sequencing (CES) is a rapid genetic approach for identifying disease-causing mutations. However, copy number variation and recombination events are poorly detected, and further investigations are required to avoid mis-genotyping. The aim of this work was to set-up an integrated strategy for GD patients genotyping using CES as a first-line test. Eight patients diagnosed with GD were analyzed by CES. Five patients were fully genotyped, while three were revealed to be homozygous for mutations that were not confirmed in the parents. Therefore, MLPA (multiplex ligation-dependent probe amplification) and specific long-range PCR were performed, and two recombinant alleles, one of them novel, and one large deletion were identified. Furthermore, an MLPA assay performed in one family resulted in the identification of an additional novel mutation (p.M124V) in a relative, in trans with the known p.N409S mutation. In conclusion, even though CES has become extensively used in clinical practice, our study emphasizes the importance of a comprehensive molecular strategy to provide proper GBA genotyping and genetic counseling.

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

Identification and Characterization of a Novel Mutation c.1090G>T (G325W) and Nine Common Mutant Alleles Leading to Gaucher Disease in Spanish Patients

2001 ◽  
Vol 27 (2) ◽  
pp. 489-495 ◽  
Author(s):  
M.A. Torralba ◽  
J.I. Pérez-Calvo ◽  
G.M. Pastores ◽  
A. Cenarro ◽  
P. Giraldo ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Identification And Characterization

A novel mutation (V191G) in a German-British type 1 Gaucher disease patient

1998 ◽  
Vol 11 (5) ◽  
pp. 411-412 ◽  
Author(s):  
Francis Y. M. Choy ◽  
M. Lisa Humphries ◽  
Yoav Ben-Yoseph
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Disease Patient ◽  
Type 1 Gaucher Disease

Identification of a novel mutation, I403T, in Cuban type 1 Gaucher disease

2011 ◽  
Vol 46 (4) ◽  
pp. 327 ◽  
Author(s):  
Kalia Lavaut ◽  
Tamara Rubio ◽  
Teresa Collazo ◽  
Alejandro A. Esperón ◽  
Lídice Reyes ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Type 1 Gaucher Disease

scholarly journals Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Esperanza Lepe-Balsalobre ◽  
José D. Santotoribio ◽  
Ramiro Nuñez-Vazquez ◽  
Salvador García-Morillo ◽  
Pilar Jiménez-Arriscado ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
University Hospital ◽  
Neurological Involvement ◽  
Lysosomal Storage ◽  
Neurological Alterations ◽  
Form Type ◽  
Monitoring Treatment

AbstractObjectivesGaucher disease (GD) is the most common inherited lysosomal storage disease, caused by mutations in acid β-glucosidase (GBA) gene. This study aimed to identify mutations in Andalusia patients with GD and their genotype-phenotype correlation.MethodsDescriptive observational study. University Hospital Virgen del Rocio patients diagnosed from GD from 1999 to 2019 were included. Demographic and clinical data, β-glucocerebrosidase activity, variants pathogenic in GBA gene and biomarkers for monitoring treatment were collected from digital medical record.ResultsTwenty-six patients with aged between 1 day and 52 years were studied. A total of six mutations described as pathogenic and one mutation not described above [c.937T>C (p.Tyr313His)] were identified in the GBA gene, four patients were homozygotes and 22 compound heterozygotes. Twenty-four patients were diagnosed in non-neuropathic form (type 1) and two cases presented neurological involvement (type 2 or 3). The most common variant was c.1226A>G (p.Asn409Ser), which was detected in 24 patients, followed by c.1448T>C (p.Leu483Pro) variant, identified in 13 patients. The c.1448T>C (p.Leu483Pro) mutation has been presented in the most severe phenotypes with neurological involvement associated with type 2 and 3 GD, while c.1226A>G (p.Asn409Ser) mutation has not been associated with neurological alterations. Splenomegaly and bone disease were the most frequent clinical manifestations, and thrombocytopenia was the most common hematological disorder.ConclusionsThe c.1226A>G (p.Asn409Ser) and c.1448T>C (p.Leu483Pro) mutations were the most common. The c.937T>C (p.Tyr313His) was identified as a novel mutation. The c.1448T>C (p.Leu483Pro) mutation was associated with neurological alterations and c.1226A>G (p.Asn409Ser) mutation has not been associated it.

Gaucher Disease Patient With Myoclonus Epilepsy and a Novel Mutation

2010 ◽  
Vol 42 (1) ◽  
pp. 65-68 ◽  
Author(s):  
Asako Tajima ◽  
Toya Ohashi ◽  
Shin-ichiro Hamano ◽  
Norimichi Higurashi ◽  
Hiroyuki Ida
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Disease Patient ◽  
Myoclonus Epilepsy

scholarly journals A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer

Medicine ◽  
2018 ◽  
Vol 97 (27) ◽  
pp. e11361 ◽  
Author(s):  
Sakura Hosoba ◽  
Katsuyuki Kito ◽  
Yukako Teramoto ◽  
Kaori Adachi ◽  
Ryota Nakanishi ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Gaucher Disease ◽  
Japanese Patient ◽  
Novel Mutation ◽  
Type 1 Gaucher Disease
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