Evidence map›Paper›PMID 33013618›Full record

ArticleFrontiers in neurology2020

p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia.

Pasquale Scoppettuolo, Noémie Ligot, Vanessa Wermenbol, Patrick Van Bogaert, Gilles Naeije

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neurology, 2020. 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
–field-weighted citation impact
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.

  1. Aberrant expression ofInternational journal of ophthalmology · 2023
    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

5 authors.

Pasquale ScoppettuoloNeurology Department, ULB-Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Noémie LigotNeurology Department, ULB-Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Vanessa WermenbolNeuropediatrics Department, ULB-Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Patrick Van BogaertPediatry Department- CHU Angers, Angers, France.
Gilles NaeijeNeurology Department, ULB-Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

COL4A1 is an essential component for basal membrane stability. Exon mutations of the COL4A1 genes are responsible for a broad spectrum of cerebral, ocular, and systemic manifestations. We describe here the phenotype of a likely pathogenic gene variant, p.Gly743Val, which is responsible for a missense mutation in the COL4A1 gene exon 30 in a three generation family with severe hypermetropia and highly penetrant porencephaly in the absence of systemic manifestations. This report highlights both the broad spectrum of COL4A1 mutations and the yield of testing the COL4A1 gene in familial ophthalmological and brain disorders.

Indexed as

COL4A1familial porencephalyocular malformationsType IV collagenvariable expressivity

Identifiers

PMID33013618
PMCPMC7516025

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.