Evidence map›Paper›PMID 41465467›Full record

ArticleInternational journal of molecular sciences2025

First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of

José Rafael Villafán-Bernal, Jhonatan Rosas-Hernández, Humberto García-Ortiz, Angélica Martínez-Hernández, Cecilia Contreras-Cubas, Israel Guerrero-Contreras, Hane Lee, Go Hun Seo, Alessandra Carnevale, Francisco Barajas-Olmos and 1 more

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2025. 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. Review
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

11 authors.

José Rafael Villafán-BernalImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.ORCID 0000-0002-6135-4270
Jhonatan Rosas-HernándezCentro de Rehabilitación Infantil Teletón, Altamira 89607, Tamaulipas, Mexico.
Humberto García-OrtizImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.ORCID 0000-0002-0453-980X
Angélica Martínez-HernándezImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.ORCID 0000-0001-9883-2988
Cecilia Contreras-CubasImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.ORCID 0000-0002-7994-3831
Israel Guerrero-ContrerasImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.ORCID 0000-0002-4956-5921
Hane Lee3billion, Inc., Seoul 03161, Republic of Korea.ORCID 0000-0002-4736-0412
Go Hun Seo3billion, Inc., Seoul 03161, Republic of Korea.ORCID 0000-0003-1518-1791
Alessandra CarnevaleMendelian Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.ORCID 0000-0003-4511-4557
Francisco Barajas-OlmosImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.ORCID 0000-0001-5064-6203
Lorena OrozcoImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.ORCID 0000-0002-5801-9180

Funding

3billion, Inc. (South Korea) "2nd End the Diagnostic Odyssey Grant"
6 · The paper itself

Abstract

MLASA2 is a rare mitochondrial disorder with limited geographic representation in published medical literature. Here, we report the first confirmed case of MLASA2 in a Latin American 16-year-old male harboring a homozygous pathogenic variant p.(Asp311Glu) in the

Indexed as

Anemia, SideroblasticMitochondrial DiseasesTyrosine-tRNA LigaseAdolescentHomozygoteHumansLatin AmericaMaleModels, MolecularMutationPedigreeTyrosine-tRNA Ligaselactic acidosismeta-analysisMLASA2sideroblastic anemiaYARS2

Identifiers

PMID41465467
PMCPMC12732460

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.