Evidence map›Paper›PMID 28721594›Full record

ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2017

Exome analysis in an Estonian multiplex family with neural tube defects-a case report.

Liina Pappa, Mart Kals, Paula Ann Kivistik, Andres Metspalu, Ann Paal, Tiit Nikopensius

Open access · greenAbstract readCase Reports
PubMed Publisher
In one paragraph

Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 33% 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

1 citing paper in PubMed, 7 citations in OpenAlex.

  1. 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

6 authors at 3 institutions in 1 country.

Liina PappaEstonian Genome Center, University of Tartu, Riia 23b, 51010, Tartu, Estonia. liinapappa@hotmail.com.ORCID http://orcid.org/0000-0003-3858-0816
Mart KalsEstonian Genome Center, University of Tartu, Riia 23b, 51010, Tartu, Estonia.
Paula Ann KivistikEstonian Genome Center, University of Tartu, Riia 23b, 51010, Tartu, Estonia.
Andres MetspaluEstonian Genome Center, University of Tartu, Riia 23b, 51010, Tartu, Estonia.
Ann PaalTallinn Children's Hospital, Tallinn, Estonia.
Tiit NikopensiusEstonian Genome Center, University of Tartu, Riia 23b, 51010, Tartu, Estonia.
University of Tartu · EEEstonian Biocentre · EETallinn Health Care College · EE

Funding

Eesti Teadusagentuur IUT20-60European Regional Development Fund 2014-2020.4.01.15-0012 GENTRANSMEDH2020 European Research Council 654248H2020 European Research Council 676550H2020 European Research Council 692145
6 · The paper itself

Abstract

introductionNeural tube defects (NTDs) are a group of common and severe congenital birth defects that occur during early embryonic development due to incomplete closure of the neural tube. The genetic architecture of human NTDs, including spina bifida and hydrocephalus, is highly heterogeneous, with multiple genes/loci and both gene-gene and gene-environment interactions involved. Hence, the variation in outcomes also most likely relates to a combination of the severity of different variants in multiple genes and genetic modifiers affecting the biochemical traits.

methodsHere, we present a multiple-spouse family with one pedigree lineage where three brothers are affected with NTDs-two lumbar spina bifidas without hydrocephalus and one obstructive hydrocephalus. We sequenced the exomes of three NTD patients and their parents.

resultsThe analysis revealed a heterozygous c.844ins68 variant in CBS, which was carried by all affected individuals and inherited from their mother. All affected individuals had a variable set of additional low frequency deleterious variants in PTK7, PLCD4, IL4I1 or RASSF4 as likely causal loci contributing to the disease development.

conclusionThis report extends the current knowledge of the genetic background of NTDs and proposes that common and low frequency variants in genes involved mostly in one-carbon metabolism or planar cell polarity (PCP) pathways can act in an additive manner to increase the genetic risk of the disease.

Indexed as

ChildEstoniaExomeFemaleGenotypeHumansMaleNeural Tube DefectsPedigreeExome sequencingHydrocephalusNeural tube defectsSpina bifida

Identifiers

PMID28721594
OpenAlexW2737402236

What OpenQuestion holds

Textmetadata
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.