Evidence map›Paper›PMID 39183359›Full record

ArticleHuman genome variation2024

A case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant.

Yuri Shibata, Akimichi Shibata, Takeshi Mizuguchi, Naomichi Matsumoto, Hitoshi Osaka

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2024. 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. 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.

Yuri Shibata *Department of Pediatrics, Sano Kosei General Hospital, Tochigi, Japan.
Akimichi Shibata *Department of Pediatrics, Japanese Red Cross Ashikaga Hospital, Tochigi, Japan.
Takeshi MizuguchiDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.
Hitoshi OsakaDepartment of Pediatrics, Jichi Medical University, Tochigi, Japan. hosaka@jichi.ac.jp.ORCID http://orcid.org/0000-0002-1320-1165

Funding

Japan Agency for Medical Research and Development (AMED) im0210625h0001, 17ek0109270s0301, 21ek0109511h0001, 22ek0109511h0002, and 23ek0109511h0003Japan Agency for Medical Research and Development (AMED) JP24ek0109674, JP24ek0109760, JP24ek0109617, JP24ek0109648, and JP24ek0109677MEXT | Japan Society for the Promotion of Science (JSPS) JP23K27568MEXT | Japan Society for the Promotion of Science (JSPS) JP24K02230
6 · The paper itself

Abstract

We report a case of severe Aicardi-Goutières syndrome caused by a novel homozygous RNASEH2B intronic variant, NC_000013.10(NM_024570.4):c.65-13G > A p.Glu22Valfs*5. The patient was born with pseudo-TORCH symptoms, including intracranial calcification, cataracts, and hepatosplenomegaly. Furthermore, the patient exhibited profound intellectual impairment and died at 14 months due to aspiration pneumonia accompanied by interstitial lung abnormalities. The severity of the patient's symptoms underscores the critical role of the C-terminal region of RNase H2B.

Identifiers

PMID39183359
PMCPMC11345432

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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.