Neuronopathic Forms in Subjects with Mutations in GBA Gene

Giraldo, Pilar; Capablo, Jose-Luis; Pocovı́, Miguel

doi:10.5772/18949

Cited by 1 publication

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References 86 publications

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“… 39 Therefore, among the 17 patients with early isolated visceral presentation, only the patient with N370S/N370S genotype could be considered as GD1; the other 16 patients (12 patients with L444P/L444P and 1 patient with N370S/Unknown mutation Genotypes) may need to be reclassified as GD3. 40 …”

Section: Discussionmentioning

confidence: 99%

Gaucher disease in Syrian children: common mutations identification and clinical futures

Alasmar

2015

Annals of Saudi Medicine

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BACKGROUND AND OBJECTIVESGaucher disease (GD) is caused by the deficiency of glucosidase beta acid (GBA). Three clinical forms of GD are available. Some mutations in the GBA gene have a high frequency in specific populations. The aim of this study was to analyze the characteristics of phenotypes and genotypes of GD in Syrian pediatric patients and assess whether a genotype-phenotype relationship could be helpful in treatment decision-making.DESIGN AND SETTINGSA cross-sectional clinical genetic study of 19 Syrian children admitted to Children’s Hospital, Damascus University.PATIENTS AND METHODSNineteen Syrian children with GD were enrolled in the study; DNA was extracted from peripheral blood leukocytes. The GBA gene was amplified by polymerase chain reaction, and the 9 most common mutations were studied using a Gaucher Disease Strip Assay (ViennaLab Diagnostics GmbH, Vienna, Austria).RESULTSThe majority of children had an early age of onset. A total of 17 patients presented severe hematological and skeletal complications. Neurological involvement was encountered in 2 patients. Twelve patients (63, 2%) were homozygous for the L444P mutation, 1 patient (5.3%) was homozygous for the N370S mutation, and 1 patient (5.3%) was heterozygous for the N370S mutation. Five patients (26.3%) had unknown mutations.CONCLUSIONL444P/L444P was the most common genotype in the studied patients. GD3 with severe visceral presentation in childhood was the dominant phenotype; N370S was found in the heterozygote state in 1 case and in the homozygote state in 1 case. This phenotype and genotype pattern is encountered in the Middle East. There was no genotype-phenotype correlation.

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Section: Discussionmentioning

confidence: 99%

Gaucher disease in Syrian children: common mutations identification and clinical futures

Alasmar

2015

Annals of Saudi Medicine

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Neuronopathic Forms in Subjects with Mutations in GBA Gene

Cited by 1 publication

References 86 publications

Gaucher disease in Syrian children: common mutations identification and clinical futures

Gaucher disease in Syrian children: common mutations identification and clinical futures

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