Evidence map›Paper›PMID 37641121›Full record

ReviewBMC medical genomics2023

The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures.

Xiang Tang, Guoqing Liu, Li Lin, Nong Xiao, Yuxia Chen

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

Review in BMC medical genomics, 2023. 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
0.9field-weighted citation impact, top 20% 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, 3 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

5 authors at 1 institution in 1 country.

Xiang TangDepartment of Rehabilitation, Children's Hospital of Chongqing Medical University, Chongqing, P.R. China.
Guoqing LiuDepartment of Rehabilitation, Children's Hospital of Chongqing Medical University, Chongqing, P.R. China.
Li LinDepartment of Rehabilitation, Children's Hospital of Chongqing Medical University, Chongqing, P.R. China.
Nong XiaoDepartment of Rehabilitation, Children's Hospital of Chongqing Medical University, Chongqing, P.R. China.
Yuxia ChenDepartment of Rehabilitation, Children's Hospital of Chongqing Medical University, Chongqing, P.R. China. yuxia_chen666@163.com.
Chongqing University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNeurodevelopmental disorder with absent language and variable seizures (NEDALVS, # 618707) are characterized by delayed speech and motor development, ocular abnormalities, and seizures. NEDAVLS is an autosomal dominant disorder caused by de novo mutations in the wasp protein family member 1 (WASF1) gene. CASE PRESENTATION: We identified a de novo nonsense variant c.1516 C > T (p.Arg506*) of WASF1 gene (NM_003931.3) in two pediatric female patients with delayed motor and language development.

conclusionThis case demonstrates the effective role of WES in the diagnosis of NEDALVS. To the best of our knowledge, this variant has not been reported in the Chinese population. This contributes to our further understanding of the disease and to research related to the genetic and clinical heterogeneity, the treatment and prognosis of the disease.

Indexed as

East Asian PeopleNeurodevelopmental DisordersChildFemaleHumansSeizuresWiskott-Aldrich Syndrome Protein FamilyWASF1 protein, humanWiskott-Aldrich Syndrome Protein FamilyAbsent languageCase reportDevelopmental delayWASF1 geneWhole-exome sequencing

Identifiers

PMID37641121
PMCPMC10464119
OpenAlexW4386219754

What OpenQuestion holds

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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.