Evidence map›Paper›PMID 39769235›Full record

ArticleInternational journal of molecular sciences2024

Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.

Pinella Failla, Lucia Saccuzzo, Ornella Galesi, Donatella Greco, Vincenza Barresi, Silvestra Amata, Corrado Romano, Marco Fichera

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

8 authors.

Pinella FaillaOasi Research Institute-IRCCS, via Conte Ruggero 73, 94018 Troina, Italy.
Lucia SaccuzzoDepartment of Biomedical and Biotechnological Sciences, Section of Clinical Biochemistry and Medical Genetics, University of Catania, via Santa Sofia, 95123 Catania, Italy.
Ornella GalesiOasi Research Institute-IRCCS, via Conte Ruggero 73, 94018 Troina, Italy.ORCID 0000-0002-7877-938X
Donatella GrecoOasi Research Institute-IRCCS, via Conte Ruggero 73, 94018 Troina, Italy.
Vincenza BarresiDepartment of Biomedical and Biotechnological Sciences, Section of Clinical Biochemistry and Medical Genetics, University of Catania, via Santa Sofia, 95123 Catania, Italy.ORCID 0000-0003-1183-6981
Silvestra AmataOasi Research Institute-IRCCS, via Conte Ruggero 73, 94018 Troina, Italy.
Corrado RomanoDepartment of Biomedical and Biotechnological Sciences, Section of Clinical Biochemistry and Medical Genetics, University of Catania, via Santa Sofia, 95123 Catania, Italy.ORCID 0000-0003-1049-0683
Marco FicheraDepartment of Biomedical and Biotechnological Sciences, Section of Clinical Biochemistry and Medical Genetics, University of Catania, via Santa Sofia, 95123 Catania, Italy.ORCID 0000-0002-8225-6880

Funding

MF was funded by grant RC-000234/22 from the Italian Ministry of Health. RC-000234/22
6 · The paper itself

Abstract

This study describes two siblings from consanguineous parents who exhibit intellectual disability, microcephaly, photosensitivity, bilateral sensorineural hearing loss, numerous freckles, and other clinical features that suggest a potential disruption of the nucleotide excision repair (NER) pathway. Whole exome sequencing (WES) identified a novel homozygous missense variant in the

Indexed as

Exome SequencingPhenotypeConsanguinityDNA-Binding ProteinsHearing Loss, SensorineuralHomozygoteHumansIntellectual DisabilityMutationMutation, MissensePedigreeDNA-Binding Proteinsxeroderma pigmentosum group F proteinblended phenotypesdual diagnosesERCC4OTOArun of homozygositywhole exome sequencing

Identifiers

PMID39769235
PMCPMC11679737

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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.