Evidence map›Paper›PMID 33459893›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2021

A new mutation in DNM2 gene in a large Italian family.

Diego Lopergolo, Silvia Bocci, Anna Maria Pinto, Floriana Valentino, Gabriella Doddato, Federica Ginanneschi, Nila Volpi, Alessandra Renieri, Fabio Giannini

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Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021. 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
0.2field-weighted citation impact, top 57% 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

0 citing papers in PubMed, 3 citations in OpenAlex.

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

9 authors at 2 institutions in 1 country.

Diego LopergoloMedical Genetics, University of Siena, Siena, Italy.
Silvia BocciDepartment of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
Anna Maria PintoGenetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Floriana ValentinoMedical Genetics, University of Siena, Siena, Italy.
Gabriella DoddatoMedical Genetics, University of Siena, Siena, Italy.
Federica GinanneschiDepartment of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
Nila VolpiDepartment of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
Alessandra RenieriMedical Genetics, University of Siena, Siena, Italy. alessandra.renieri@unisi.it.ORCID http://orcid.org/0000-0002-0846-9220
Fabio GianniniDepartment of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
University of Siena · ITAzienda Ospedaliera Universitaria Senese · IT

Funding

Fondazione Telethon GTB18001
6 · The paper itself

Abstract

The Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy with great clinical and genetic heterogeneity. Mutations in DNM2 have been associated with CMT dominant intermediate B (CMTDIB). However, mutations in the same gene are known to induce also axonal CMT (CMT2M) or centronuclear myopathy. Moreover, the ability of effectively and simultaneously sequencing different CMT-related genes by next-generation sequencing approach makes it possible to detect even the presence of modifier genes that sometimes give reason of clinical variability in the context of complex phenotypes. Here, we describe an Italian family with very variable severity of phenotype among members harboring a novel DNM2 gene mutation which caused a prevalent CMT2M phenotype. The contemporary presence of a de novo variant in PRX gene in the most severely affected family member suggests a possible modulator effect of the PRX variant thus highlighting the possible impact of modifier genes in CMT.

Indexed as

Charcot-Marie-Tooth DiseaseDynamin IIMyopathies, Structural, CongenitalHumansItalyMutationPhenotypeDNM2 protein, humanDynamin IICharcot-Marie-Tooth (CMT) diseaseDNM2Modifier genes

Identifiers

PMID33459893
OpenAlexW3123801980

What OpenQuestion holds

Textmetadata
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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.