New mutation in Fabry disease: c.448delG, first phenotypic description

Fabry disease (FD) (Anderson-Fabry disease, OMIM 301500) is a genetic disorder caused by a pathogenic variant in the GLA gene on chromosome Xq22 that produces a deficiency in the lysosomal enzyme alpha-galactosidase A. It is transmitted as an X-linked trait, although de novo mutations have been desc...

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Autores: Calabrese, Esteban, Rodriguez Botta, Guillermo, Rozenfeld, Paula Adriana
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:Argentina
Institución:Universidad Nacional de La Plata
Repositorio:SEDICI (UNLP)
Idioma:inglés
OAI Identifier:oai:sedici.unlp.edu.ar:10915/118817
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/118817
Access Level:acceso abierto
Palabra clave:Biología
Fabry disease
Alpha-galactosidase A enzyme
GLA gene
Novo mutation
Cardiac strain
Myocardial hypertrophy
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spelling New mutation in Fabry disease: c.448delG, first phenotypic descriptionCalabrese, EstebanRodriguez Botta, GuillermoRozenfeld, Paula AdrianaBiologíaFabry diseaseAlpha-galactosidase A enzymeGLA geneNovo mutationCardiac strainMyocardial hypertrophyFabry disease (FD) (Anderson-Fabry disease, OMIM 301500) is a genetic disorder caused by a pathogenic variant in the GLA gene on chromosome Xq22 that produces a deficiency in the lysosomal enzyme alpha-galactosidase A. It is transmitted as an X-linked trait, although de novo mutations have been described. The objective of this report is to describe the clinical characteristics of a patient with FD who is a carrier of a mutation not previously studied, in order to provide information on the genotype-phenotype correlation in this pathology. 38-year-old patient who consulted Neurology for positional vertigo. He also reported acroparesthesia, anhidrosis, heat intolerance and episodes of abdominal pain, with postprandial discomfort from 10 years of age. Physical examination showed horizonto-rotatory nystagmus in both looks, the rest of the neurological evaluation did not present abnormalities. The presence of umbilical and thighs angiokeratomas was identified. Determination of Alpha-Galactosidase in blood was requested: 0.34 μmol/l/h (2.10–10.51 μmol/l/h). Genetic analysis detected a deletion of a guanine at position 448, in exon 3 of the GLA gene (c.448delG). This mutation was considered to be pathogenic, confirming the diagnosis of FD, although it is not described in the data bases. Genetic counseling and a family pedifree study were performed without finding relatives with this variant of the GLA gene or a family history of FD, which suggests a de novo mutation.Instituto de Estudios Inmunológicos y Fisiopatológicos2021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionArticulohttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfhttp://sedici.unlp.edu.ar/handle/10915/118817enginfo:eu-repo/semantics/altIdentifier/issn/2214-4269info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ymgmr.2021.100708info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-nd/4.0/Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)reponame:SEDICI (UNLP)instname:Universidad Nacional de La Platainstacron:UNLP2024-05-08T13:06:12Zoai:sedici.unlp.edu.ar:10915/118817Institucionalhttp://sedici.unlp.edu.ar/Universidad públicaNo correspondehttp://sedici.unlp.edu.ar/oai/snrdalira@sedici.unlp.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:13292024-05-08 13:06:12.72SEDICI (UNLP) - Universidad Nacional de La Platafalse
dc.title.none.fl_str_mv New mutation in Fabry disease: c.448delG, first phenotypic description
title New mutation in Fabry disease: c.448delG, first phenotypic description
spellingShingle New mutation in Fabry disease: c.448delG, first phenotypic description
Calabrese, Esteban
Biología
Fabry disease
Alpha-galactosidase A enzyme
GLA gene
Novo mutation
Cardiac strain
Myocardial hypertrophy
title_short New mutation in Fabry disease: c.448delG, first phenotypic description
title_full New mutation in Fabry disease: c.448delG, first phenotypic description
title_fullStr New mutation in Fabry disease: c.448delG, first phenotypic description
title_full_unstemmed New mutation in Fabry disease: c.448delG, first phenotypic description
title_sort New mutation in Fabry disease: c.448delG, first phenotypic description
dc.creator.none.fl_str_mv Calabrese, Esteban
Rodriguez Botta, Guillermo
Rozenfeld, Paula Adriana
author Calabrese, Esteban
author_facet Calabrese, Esteban
Rodriguez Botta, Guillermo
Rozenfeld, Paula Adriana
author_role author
author2 Rodriguez Botta, Guillermo
Rozenfeld, Paula Adriana
author2_role author
author
dc.subject.none.fl_str_mv Biología
Fabry disease
Alpha-galactosidase A enzyme
GLA gene
Novo mutation
Cardiac strain
Myocardial hypertrophy
topic Biología
Fabry disease
Alpha-galactosidase A enzyme
GLA gene
Novo mutation
Cardiac strain
Myocardial hypertrophy
description Fabry disease (FD) (Anderson-Fabry disease, OMIM 301500) is a genetic disorder caused by a pathogenic variant in the GLA gene on chromosome Xq22 that produces a deficiency in the lysosomal enzyme alpha-galactosidase A. It is transmitted as an X-linked trait, although de novo mutations have been described. The objective of this report is to describe the clinical characteristics of a patient with FD who is a carrier of a mutation not previously studied, in order to provide information on the genotype-phenotype correlation in this pathology. 38-year-old patient who consulted Neurology for positional vertigo. He also reported acroparesthesia, anhidrosis, heat intolerance and episodes of abdominal pain, with postprandial discomfort from 10 years of age. Physical examination showed horizonto-rotatory nystagmus in both looks, the rest of the neurological evaluation did not present abnormalities. The presence of umbilical and thighs angiokeratomas was identified. Determination of Alpha-Galactosidase in blood was requested: 0.34 μmol/l/h (2.10–10.51 μmol/l/h). Genetic analysis detected a deletion of a guanine at position 448, in exon 3 of the GLA gene (c.448delG). This mutation was considered to be pathogenic, confirming the diagnosis of FD, although it is not described in the data bases. Genetic counseling and a family pedifree study were performed without finding relatives with this variant of the GLA gene or a family history of FD, which suggests a de novo mutation.
publishDate 2021
dc.date.none.fl_str_mv 2021
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dc.identifier.none.fl_str_mv http://sedici.unlp.edu.ar/handle/10915/118817
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dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/issn/2214-4269
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ymgmr.2021.100708
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
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Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)
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rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-nd/4.0/
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