Evidence map›Paper›PMID 26763879›Full record

ArticleJournal of human genetics2016

A novel de novo POGZ mutation in a patient with intellectual disability.

Bo Tan, Yongyi Zou, Yue Zhang, Rui Zhang, Jianjun Ou, Yidong Shen, Jingping Zhao, Xiaomei Luo, Jing Guo, Lanlan Zeng and 5 more

Open access · bronzeAbstract read
PubMed Publisher
In one paragraph

Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
3.0field-weighted citation impact, top 9% 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

25 citing papers in PubMed, 43 citations in OpenAlex.

  1. Article
  2. Translational pediatrics · 2026
    Article
  3. CHAMP1 complex promotes heterochromatin assembly and reduces replication stress.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Review
  10. A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.American journal of medical genetics. Part A · 2022
    Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Deficiency ofBrain communications · 2022
    Article
  17. Article
  18. Article
  19. Article
  20. 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

15 authors at 2 institutions in 1 country.

Bo TanState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Yongyi ZouState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Yue ZhangState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Rui ZhangState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Jianjun OuInstitute of Mental Health, the Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yidong ShenInstitute of Mental Health, the Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Jingping ZhaoInstitute of Mental Health, the Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Xiaomei LuoState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Jing GuoState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Lanlan ZengState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Yiqiao HuState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Yu ZhengState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Qian PanState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Desheng LiangState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Lingqian WuState Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Central South University · CNSecond Xiangya Hospital of Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

POGZ, the gene encoding pogo transposable element-derived protein with zinc-finger domain, has been implicated in autism spectrum disorder and it is widely expressed in the human tissues, including the brain. Intellectual disability (ID) is highly heterogeneous neurodevelopment disorder and affects ~2-3% of the general population. Here we report the identification of a novel frameshift mutation in the coding region of the POGZ gene (c.1277_1278insC), which occurred de novo in a Chinese patient with ID. In silico analysis and western blotting revealed this frameshift mutation generating truncated protein in peripheral blood lymphocytes, and this may disrupt several important domains of POGZ gene. Our finding broadens the spectrum of POGZ mutations and may help to understand the molecular basis of ID and aid genetic counseling.

Indexed as

Autism Spectrum DisorderCell Cycle ProteinsChildDNA-Binding ProteinsExomeFemaleFrameshift MutationHumansIntellectual DisabilityTransposasesCell Cycle ProteinsDNA-Binding ProteinsPOGZ protein, humanTransposases

Identifiers

PMID26763879
OpenAlexW2240105623

What OpenQuestion holds

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Registered trials

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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.