Evidence map›Paper›PMID 25927938›Full record

ArticleBMC medical genetics2015

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

Maria Rosaria D'Apice, Antonio Novelli, Alessandra di Masi, Michela Biancolella, Antonio Antoccia, Francesca Gullotta, Norma Licata, Daniela Minella, Barbara Testa, Anna Maria Nardone and 8 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genetics, 2015. 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
8.4field-weighted citation impact, top 2% of its field
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, 34 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

18 authors at 5 institutions in 1 country.

Maria Rosaria D'ApiceFondazione Policlinico Tor Vergata, Rome, Italy. d.apice@med.uniroma2.it.
Antonio NovelliMendel Institute, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. a.novelli@css-mendel.it.
Alessandra di MasiDepartment of Biology, "Roma Tre" University, Rome, Italy. dimasi@uniroma3.it.
Michela BiancolellaDepartment of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy. michela.biancolella@uniroma2.it.
Antonio AntocciaDepartment of Biology, "Roma Tre" University, Rome, Italy. antoccia@uniroma3.it.
Francesca GullottaDepartment of Biology, "Roma Tre" University, Rome, Italy. francescagullotta@hotmail.com.
Norma LicataDepartment of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy. normalicata@hotmail.com.
Daniela MinellaDepartment of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy. danymin@gmail.com.
Barbara TestaDepartment of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy. testabarbara@libero.it.
Anna Maria NardoneFondazione Policlinico Tor Vergata, Rome, Italy. annamaria.nardone@ptvonline.it.
Giampiero PalmieriPathological Anatomy Unit, University Tor Vergata, Rome, Italy. giampiero.palmieri@uniroma2.it.
Emma CalabreseDepartment of Internal Medicine, Gastrointestinal Unit, Tor Vergata University of Rome, Rome, Italy. clbmme00@uniroma2.it.
Livia BianconeDepartment of Internal Medicine, Gastrointestinal Unit, Tor Vergata University of Rome, Rome, Italy. biancone@med.uniroma2.it.
Caterina TanzarellaDepartment of Biology, "Roma Tre" University, Rome, Italy. tanzarel@uniroma3.it.
Marina FrontaliInstitute of Translational Pharmacology, CNR, Rome, Italy. marina.frontali@ift.cnr.it.
Federica SangiuoloFondazione Policlinico Tor Vergata, Rome, Italy. sangiuolo@med.uniroma2.it.
Giuseppe NovelliFondazione Policlinico Tor Vergata, Rome, Italy. novelli@med.uniroma2.it.
Francesco PalloneDepartment of Internal Medicine, Gastrointestinal Unit, Tor Vergata University of Rome, Rome, Italy. pallone@med.uniroma2.it.
University of Rome Tor Vergata · ITRoma Tre University · ITPoliclinico Tor Vergata · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITIstituto di Farmacologia Traslazionale · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCopy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs' effects on protein family evolution giving rise to gene duplicates or losses. "Unsuccessful" duplicates that remain in the genome as pseudogenes often exhibit functional roles. So, changes in gene and pseudogene number may contribute to development or act as susceptibility alleles of diseases. CASE PRESENTATION: We report a de novo heterozygous 271 Kb microdeletion at 8q21.2 region which includes the family of REXO1L genes and pseudogenes in a young man affected by global development delay, progeroid signs, and gastrointestinal anomalies. Molecular and cellular analysis showed that the REXO1L1 gene hemizygosity in a patient's fibroblasts induces genetic instability and increased apoptosis after treatment with different DNA damage-induced agents.

conclusionsThe present results support the hypothesis that low copy gene number within REXO1L1 cluster could play a significant role in this complex clinical and cellular phenotype.

Indexed as

Sequence DeletionAdolescentApraxiasChild, PreschoolDevelopmental DisabilitiesGene Expression RegulationGenetic LociHumansMalabsorption SyndromesMaleMultigene FamilyPhenotypePseudogenesYoung Adult

Identifiers

PMID25927938
PMCPMC4422118
OpenAlexW2100710295

What OpenQuestion holds

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LicenceCC BY
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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.