Evidence map›Paper›PMID 33672664›Full record

ArticleInternational journal of molecular sciences2021

A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.

Viola Alesi, Francesca Sessini, Silvia Genovese, Giusy Calvieri, Ester Sallicandro, Laura Ciocca, Maura Mingoia, Antonio Novelli, Paolo Moi

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

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.7field-weighted citation impact, top 31% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. A novel compound heterozygous variant ofFrontiers in neurology · 2024
    Article
  3. Article
  4. Expanding the Phenotypic Spectrum ofChildren (Basel, Switzerland) · 2021
    Article
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

9 authors at 3 institutions in 1 country.

Viola AlesiLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Francesca SessiniPediatric Clinic and Rare Diseases, Brotzu Hospital, 09134 Cagliari, Italy.
Silvia GenoveseLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Giusy CalvieriLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Ester SallicandroLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Laura CioccaLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Maura MingoiaDepartment of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.ORCID 0000-0003-3716-241X
Antonio NovelliLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0002-9037-4297
Paolo MoiDepartment of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
Bambino Gesù Children's Hospital · ITUniversity of Cagliari · ITAzienda Ospedaliera G. Brotzu · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Distal Arthrogryposis type 5D (DA5D) is characterized by congenital contractures involving the distal joints, short stature, scoliosis, ptosis, astigmatism, and dysmorphic features. It is inherited in an autosomal recessive manner, and it is a result of homozygous or compound heterozygous variants in the ECEL1 gene. Here, we report two patients of Sardinian origin harboring a new intronic homozygous variant in ECEL1 (c.1507-9G>A), which was predicted to affect mRNA splicing by activating a cryptic acceptor site. The frequency of the variant is very low in the general human population, and its presence in our families can be attributed to a founder effect. This study provides an updated review of the known causative mutations of the ECEL1 gene, enriching the allelic spectrum to include the noncoding sequence.

Indexed as

Genetic VariationAdolescentArthrogryposisChromosomes, HumanComputer SimulationExomeFemaleHumansInfant, NewbornIntronsMaleMetalloendopeptidasesOphthalmoplegiaPedigreeRetinal DiseasesECEL1 protein, humanMetalloendopeptidases2q37.1Ac.1507-9G&gtDA5Ddistal arthrogryposisECEL1

Identifiers

PMID33672664
PMCPMC7924324
OpenAlexW3132233533

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.