Evidence map›Paper›PMID 33517515›Full record

ReviewChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2021

Identification of TSC2 mosaic mutation limited to cortical tuber with TSC targeted sequencing: a case report and literature review.

Yuanfeng Zhou, Xinhua Wang, Ji Wang, Yifeng Ding, Yi Wang, Hao Li, Rui Zhao, Bingbing Wu

Abstract readCase ReportsReview
PubMed Publisher
In one paragraph

Review in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 39% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
  3. 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

8 authors at 1 institution in 1 country.

Yuanfeng ZhouDepartment of Neurology, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China.
Xinhua WangDepartment of Neurology, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China.
Ji WangDepartment of Neurology, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China.
Yifeng DingDepartment of Neurology, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China.
Yi WangDepartment of Neurology, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China.
Hao LiDepartment of Neurosurgery, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China.
Rui ZhaoDepartment of Neurosurgery, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China. zhao007rui007@sina.com.
Bingbing WuThe Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China. bingbingwu2010@163.com.
Children's Hospital of Fudan University · CN

Funding

Research Project of Shanghai Municipal Health Commission 201940351the science and technology commission of Shanghai 18411962000
6 · The paper itself

Abstract

backgroundTuberous sclerosis complex (TSC) is an autosomal dominant disorder, mainly in childhood presents epilepsy due to cortical tubers. TSC1/TSC2 pathogenic variants cannot be detected in regular molecular genetic testing in around 10-15% of TSC patients.

methodsWe analyzed TSC genes in both cortical tuber, blood and skin samples from a pediatric patient with refractory epilepsy.

resultsWe found no germline mutations by whole-exome sequencing. Well in targeted sequencing of TSC1/2 data, we identified de novo mutations only in cortical tuber: TSC2 NM_000548.5: exon34:c.4183C>T (p.Gln1395*) in 3% of the alleles. No other TSC mutations were found in patient's blood and skin samples and her parents' blood sample.

conclusionOur case report found TSC2 mosaic mutations can be only limited to cortical tuber in patients with TSC.

Indexed as

EpilepsyTuberous SclerosisChildFemaleHumansMutationTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinCortical tuberTargeted sequencingTSC2Tuberous sclerosis complex

Identifiers

PMID33517515
OpenAlexW3128957858

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.