Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect.

Harry Pachajoa, Sebastián Bonilla, Daniel Andrés Nieva-Posso

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. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing 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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

3 authors.

Harry PachajoaGenomic Medicine Laboratory, Department of Basic Medical Sciences, Faculty of Health Sciences, Universidad Icesi, Cali 760031, Colombia.ORCID 0000-0003-2672-0439

Sebastián BonillaDepartamento de Genética Clinica, Fundación Valle del Lili, Cali 760032, Colombia.

Daniel Andrés Nieva-PossoPrograma de Medicina, Universidad del Valle, Cali 760042, Colombia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multilocus pathogenic variation-when multiple genetic disorders coexist in a single individual-remains rare but is increasingly recognized in the era of genomic medicine. Reporting such cases is essential for improving diagnostic accuracy, refining clinical management, and informing genetic counseling. We describe a pediatric case with a complex phenotype resulting from the coexistence of two distinct genetic diagnoses-cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive lipid storage disorder caused by biallelic mutations in the

Indexed as

BRCA2 ProteinKlinefelter SyndromeXanthomatosis, CerebrotendinousCholestanetriol 26-MonooxygenaseHumansMaleMutationPhenotypeBRCA2 ProteinBRCA2 protein, humanCholestanetriol 26-MonooxygenaseCYP27A1 protein, humanBRCA2 proteincerebrotendinousgenetic counselinggenetic diseasesinbornKlinefelter syndromewhole exome sequencingxanthomatosis

Identifiers

PMID41226549

DOI10.3390/ijms262110510

PMCPMC12609313

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LicenceCC BY

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Registered trials

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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.