Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family

Gaucher disease (GD) is a lysosomal storage disorder that is associated with bi-allelic pathogenic variants in GBA. Its wide clinical spectrum, ranging from mild organomegaly to significant skeletal and neurological involvement, is partially explained by genotype-phenotype correlations. We present a...

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Autores principales: Cullufi, P., Tabaku, M., Beetz, C., Tomori, S., Velmishi, V., Gjikopulli, A., Bauer, P., Wirth, S., Rolfs, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831897/
https://www.ncbi.nlm.nih.gov/pubmed/31709146
http://dx.doi.org/10.1016/j.ymgmr.2019.100532
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author Cullufi, P.
Tabaku, M.
Beetz, C.
Tomori, S.
Velmishi, V.
Gjikopulli, A.
Bauer, P.
Wirth, S.
Rolfs, A.
author_facet Cullufi, P.
Tabaku, M.
Beetz, C.
Tomori, S.
Velmishi, V.
Gjikopulli, A.
Bauer, P.
Wirth, S.
Rolfs, A.
author_sort Cullufi, P.
collection PubMed
description Gaucher disease (GD) is a lysosomal storage disorder that is associated with bi-allelic pathogenic variants in GBA. Its wide clinical spectrum, ranging from mild organomegaly to significant skeletal and neurological involvement, is partially explained by genotype-phenotype correlations. We present a family, in which all members over two generations presented with at least splenomegaly. Comprehensive clinical, biochemical and genetic workup was required to diagnose GD, which is caused by as many as four distinct GBA genotypes.
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spelling pubmed-68318972019-11-08 Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family Cullufi, P. Tabaku, M. Beetz, C. Tomori, S. Velmishi, V. Gjikopulli, A. Bauer, P. Wirth, S. Rolfs, A. Mol Genet Metab Rep Short Communication Gaucher disease (GD) is a lysosomal storage disorder that is associated with bi-allelic pathogenic variants in GBA. Its wide clinical spectrum, ranging from mild organomegaly to significant skeletal and neurological involvement, is partially explained by genotype-phenotype correlations. We present a family, in which all members over two generations presented with at least splenomegaly. Comprehensive clinical, biochemical and genetic workup was required to diagnose GD, which is caused by as many as four distinct GBA genotypes. Elsevier 2019-10-26 /pmc/articles/PMC6831897/ /pubmed/31709146 http://dx.doi.org/10.1016/j.ymgmr.2019.100532 Text en © 2019 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Cullufi, P.
Tabaku, M.
Beetz, C.
Tomori, S.
Velmishi, V.
Gjikopulli, A.
Bauer, P.
Wirth, S.
Rolfs, A.
Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family
title Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family
title_full Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family
title_fullStr Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family
title_full_unstemmed Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family
title_short Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family
title_sort comprehensive clinical, biochemical and genetic screening reveals four distinct gba genotypes as underlying variable manifestation of gaucher disease in a single family
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831897/
https://www.ncbi.nlm.nih.gov/pubmed/31709146
http://dx.doi.org/10.1016/j.ymgmr.2019.100532
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