Evidence map›Paper›PMID 38895855›Full record

ArticleMolecular genetics & genomic medicine2024

No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant.

Irene Capelli, Roberta Di Costanzo, Valeria Aiello, Sarah Lerario, Paola De Giovanni, Marcello Montevecchi, Davide Cerretani, Vincenzo Donadio, Gaetano La Manna, Renzo Mignani

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PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Irene CapelliNephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Roberta Di CostanzoNephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Valeria AielloNephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Sarah LerarioNephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Paola De GiovanniDepartment of Nephrology, Infermi Hospital, Rimini, Italy.
Marcello MontevecchiDepartment of Nephrology, Infermi Hospital, Rimini, Italy.
Davide CerretaniDepartment of Nephrology, Infermi Hospital, Rimini, Italy.
Vincenzo DonadioIRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
Gaetano La MannaNephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.ORCID https://orcid.org/0000-0001-5473-8551
Renzo MignaniDepartment of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy.

Funding

This research received no external funding.
6 · The paper itself

Abstract

backgroundFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by variants in GLA gene leading to deficient α-galactosidase A enzyme activity. This deficiency leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3), in various tissues and organs, which can result in life-threatening complications. The clinical presentation of the disease can vary from the "classic" phenotype with pediatric onset and multi-organ involvement to the "later-onset" phenotype, which presents with predominantly cardiac symptoms. In recent years, advances in screening studies have led to the identification of an increasing number of variants of unknown significance that have not yet been described, and whose pathogenic role remains undetermined.

methodsIn this clinical report, we describe the case of an asymptomatic adult female who was found to have a new variant of unknown significance, p.Met70Val. Given the unknown pathogenic role of this variant, a thorough analysis of the potential organ involvement was conducted. The clinical data were analyzed retrospectively.

resultsThe analysis revealed that there were no signs of significant organ involvement, and the benignity of the variant was confirmed.

conclusionThis case underscores the importance of a comprehensive evaluation of new variants of unknown significance to establish their pathogenicity accurately.

Indexed as

alpha-GalactosidaseFabry DiseaseAdultFemaleHumansPhenotypealpha-GalactosidaseGLA protein, humanFabry diseasepathogenicityvariantvariant of unknown significant

Identifiers

PMID38895855
PMCPMC11185943

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