Evidence map›Paper›PMID 39496895›Full record

ArticleEuropean journal of human genetics : EJHG2025

Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.

Brian Sperelakis-Beedham, Cyril Gitiaux, Marine Rajaoba, Maryse Magen, Nicolas Derive, Jerome Chansard, Jean-Madeleine de Sainte Agathe, Marie-Laure Maurin, Zahra Assouline, Christine Barnerias and 3 more

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In one paragraph

Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

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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

13 authors.

Brian Sperelakis-BeedhamService de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Cyril GitiauxUniversité Paris Cité, Paris, France.
Marine RajaobaService de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Maryse MagenService de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Nicolas DeriveLaboratoire de Biologie Médicale Multi-Sites SeqOIA Assistance-Publique, Paris, France.ORCID 0000-0002-9804-5228
Jerome ChansardLaboratoire de Biologie Médicale Multi-Sites SeqOIA Assistance-Publique, Paris, France.
Jean-Madeleine de Sainte AgatheLaboratoire de Biologie Médicale Multi-Sites SeqOIA Assistance-Publique, Paris, France.ORCID 0000-0002-7753-8226
Marie-Laure MaurinService de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Zahra AssoulineService de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Christine BarneriasUniversité Paris Cité, Paris, France.
Isabelle DesguerreUniversité Paris Cité, Paris, France.
Julie SteffannService de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.ORCID 0000-0001-5259-4144
Giulia BarciaService de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France. giulia.barcia@aphp.fr.ORCID 0000-0001-6657-5040

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Friedreich's Ataxia (FRDA) is the most common hereditary ataxia and is mainly caused by biallelic GAA repeat expansion in the FXN gene. Rare patients carrying FXN point mutations or intragenic deletions are reported. We describe the first FRDA patient with a chromosome 9 segmental Uniparental isoDisomy (UPiD) unmasking a homozygous FXN expansion initially undetected by TP-PCR. The child presented with a progressive proprioceptive ataxia associated with peripheral sensory neuronopathy and severe scoliosis. Whole genome sequencing (WGS) identified a maternal segmental Uniparental Isodisomy (UPiD) encompassing FXN. Short tandem repeats analysis on WGS showed a biallelic FXN expansion. The identification of a deletion in the primer-annealing region of the TP-PCR explained the initial TP-PCR failure. This is the first documented case of FRDA caused by segmental UPiD. This case highlights the complexity of the molecular diagnosis of FRDA, and emphasises the importance of integrating results from various technical diagnostic approaches.

Indexed as

FrataxinFriedreich AtaxiaIron-Binding ProteinsUniparental DisomyChildFemaleHumansFrataxinIron-Binding Proteins

Identifiers

PMID39496895
PMCPMC11711457

What OpenQuestion holds

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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.