Evidence map›Paper›PMID 27920636›Full record

ArticleMolecular syndromology2016

Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes.

Gabrielle S Vianna, Mariana L Freitas, Valdirene T de Oliveira, Rafaella X Pietra, Michele da S Gonçalves, Patrícia P O Rocha, Rejane A C Monteiro, Luana C A Ferreira, Rosana R Xavier, Andréia M Carvalho and 8 more

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In one paragraph

Article in Molecular syndromology, 2016. 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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0cells of the map it votes in
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

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, 0 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

18 authors at 5 institutions in 2 countries.

Gabrielle S ViannaLaboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
Mariana L FreitasLaboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
Valdirene T de OliveiraLaboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
Rafaella X PietraLaboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
Michele da S GonçalvesSetor de Pesquisa & Desenvolvimento (P&D) do Instituto Hermes Pardini, Vespasiano, Campina Grande, Brazil.
Patrícia P O RochaLaboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
Rejane A C MonteiroLaboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
Luana C A FerreiraLaboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
Rosana R XavierEscola Especializada Joana Martins APAE, Santa Luzia, Campina Grande, Brazil.
Andréia M CarvalhoEscola Especializada Joana Martins APAE, Santa Luzia, Campina Grande, Brazil.
Patrícia R de M LimaEscola Especializada Joana Martins APAE, Santa Luzia, Campina Grande, Brazil.
Maria Augusta N P MonteiroEscola Especializada Joana Martins APAE, Santa Luzia, Campina Grande, Brazil.
Elvis C MateoSetor de Pesquisa & Desenvolvimento (P&D) do Instituto Hermes Pardini, Vespasiano, Campina Grande, Brazil.
Juliana G GiannettiFaculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte, Campina Grande, Brazil.
Giovana da C CésarCTI Pediátrico, Hospital Santa Casa, Belo Horizonte, Brazil.
Joziele de S LimaHospital Infantil João Paulo II, Belo Horizonte, Brazil.
Paula F V MedeirosUniversidade Federal de Campina Grande, Campina Grande, Brazil.
Fernanda S JeheeLaboratório de Genética Humana, Instituto de Ensino e Pesquisa da Santa Casa, Belo Horizonte, Brazil.
Instituto de Ensino e Pesquisa Santa Casa · BRInfant · IESanta Casa Hospital · BRUniversidade Federal de Campina Grande · BRUniversidade Federal de Minas Gerais · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chromosomal changes are frequently observed in patients with syndromic seizures. Understanding the genetic etiology of this pathology is crucial for the guidance and genetic counseling of families as well as for the establishment of appropriate treatment. A combination of MLPA kits was used to identify pathogenic CNVs in a group of 70 syndromic patients with seizures. Initially, a screening was performed for subtelomeric changes (MLPA P036 and P070 kits) and for the regions most frequently related to microdeletion/microduplication syndromes (MLPA P064). Subsequently, the MLPA P343 was used to identify alterations in the 15q11q13, 16p11.2, and 22q13 regions. Screening with MLPA P343 allowed a 10-15.7% increase in the detection rate of CNVs reinforcing the importance of investigating changes in 15q11q13 and 16p11.2 in syndromic patients with seizures. We also demonstrated that the MLPA technique is an alternative with a great diagnostic potential, and we proposed its use as part of the initial assessment of syndromic patients with seizures.

Indexed as

Congenital malformationsDevelopmental delayIntellectual disabilityMLPASeizuresSubmicroscopic chromosomal changes

Identifiers

PMID27920636
PMCPMC5131333
OpenAlexW2539460725

What OpenQuestion holds

Textmetadata
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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.