Evidence map›Paper›PMID 30376821›Full record

ArticleBMC medical genetics2018

NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report.

Chun-Chun Hu, Yun-Jun Sun, Chun-Xue Liu, Bing-Rui Zhou, Chun-Yang Li, Qiong Xu, Xiu Xu

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

Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 26% 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

2 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. 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

7 authors at 2 institutions in 1 country.

Chun-Chun HuDepartment of Child Healthcare, Children's Hospital of Fudan University, Shanghai, 201102, China.
Yun-Jun SunInstitute of Neuroscience, State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, 200031, China. sunyunjun@ion.ac.cn.
Chun-Xue LiuDepartment of Child Healthcare, Children's Hospital of Fudan University, Shanghai, 201102, China.
Bing-Rui ZhouDepartment of Child Healthcare, Children's Hospital of Fudan University, Shanghai, 201102, China.
Chun-Yang LiDepartment of Child Healthcare, Children's Hospital of Fudan University, Shanghai, 201102, China.
Qiong XuDepartment of Child Healthcare, Children's Hospital of Fudan University, Shanghai, 201102, China.
Xiu XuDepartment of Child Healthcare, Children's Hospital of Fudan University, Shanghai, 201102, China. xuxiu@fudan.edu.cn.ORCID 0000-0003-0143-5105
Children's Hospital of Fudan University · CNChinese Academy of Sciences · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutism spectrum disorder (ASD) is a neurodevelopmental disorder in which genetics plays a key aetiological role. The gene encoding NAD(P)H steroid dehydrogenase-like protein (NSDHL) is expressed in developing cortical neurons and glia, and its mutation may result in intellectual disability or congenital hemidysplasia. CASE PRESENTATION: An 8-year-old boy presented with a 260-kb NSDHL-containing duplication at Xq28 (151,868,909 - 152,129,300) inherited from his mother. His clinical features included defects in social communication and interaction, restricted interests, attention deficit, impulsive behaviour, minor facial anomalies and serum free fatty acid abnormality.

conclusionThis is the first report of an ASD patient with a related NSDHL-containing duplication at Xq28. Further studies and case reports are required for genetic research to demonstrate that duplication as well as mutation can cause neurodevelopmental diseases.

Indexed as

Chromosome DuplicationMaternal Inheritance3-Hydroxysteroid DehydrogenasesAdultAutism Spectrum DisorderChildChromosomes, Human, Pair 10Fatty Acids, NonesterifiedFemaleGene DosageGene ExpressionHumansMale3-Hydroxysteroid DehydrogenasesFatty Acids, NonesterifiedNsdhl protein, humanAutismCNVNSDHLXq28 duplication

Identifiers

PMID30376821
PMCPMC6208182
OpenAlexW2899002672

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.