2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-AN OVERVIEW BETWEEN THE CORRELATION OF BONE MANIFESTATIONS AND THE VARIANTS OF GBA GENE IN GAUCHER DISEASE

AN OVERVIEW BETWEEN THE CORRELATION OF BONE MANIFESTATIONS AND THE VARIANTS OF GBA GENE IN GAUCHER DISEASE

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The document discusses the correlation between bone manifestations and variants of the GBA gene in Gaucher Disease (GD). GD is a genetic disorder caused by the deficiency of the lysosomal enzyme GBA. Bone lesions are present in 25-32% of GD patients and significantly impact their quality of life. However, there are limited studies investigating the correlation between specific genotypes and bone manifestations in GD, particularly in Colombia.<br /><br />The methodology section mentions the affiliations of the authors and the databases used for the research. The search included articles published in English, Spanish, and Portuguese from 1995 to 2022, with a focus on case studies, systematic reviews, comparative studies, scoping reviews, and meta-analyses.<br /><br />The results of the study are not provided in the summarized content.<br /><br />Overall, the document highlights the importance of understanding the relationship between the GBA gene variants and bone manifestations in GD. The knowledge gained from such studies can help with early diagnosis, prognosis, and preventive measures for GD patients. However, specific findings or conclusions are not mentioned in the summarized content.

Asset Subtitle

Co-Author - Daniela Arturo Terranova, Biol, MS, PhD (s); Co-Author - Lina Moreno, MD, MSc, PhD; Presenting Author - Jose Satizabal Soto, MD , MSc , PhD;

Meta Tag

Biochemical genetics

Bioinformatics

Genomic Methodologies

Genotype-Phenotype Correlations

Metabolic Disorder

Co-Author Daniela Arturo Terranova, Biol, MS, PhD (s)

Co-Author Lina Moreno, MD, MSc, PhD

Presenting Author Jose Satizabal Soto, MD , MSc , PhD

Keywords

correlation

bone manifestations

variants

GBA gene

Gaucher Disease

genetic disorder

lysosomal enzyme

deficiency

quality of life

studies