Evidence map›Paper›PMID 41455048›Full record

ArticleInternational journal of hematology2026

CYCS-related thrombocytopenia in three Japanese families with a novel variant in one family.

Natsuhiko Yamada, Atsushi Sakamoto, Rintaro Nagoshi, Saori Endo, Masaki Yamamoto, Shoji Saito, Yuji Yamada, Toru Uchiyama, Kumiko Yanagi, Tadashi Kaname and 2 more

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in International journal of hematology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

Natsuhiko YamadaCenter for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), Tokyo, Japan.ORCID http://orcid.org/0009-0005-7348-8304
Atsushi SakamotoChildren's Cancer Center, NCCHD, Tokyo, Japan. sakamoto-a@ncchd.go.jp.ORCID http://orcid.org/0000-0002-2222-5425
Rintaro NagoshiCenter for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), Tokyo, Japan.ORCID http://orcid.org/0000-0002-8373-0310
Saori EndoDepartment of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.ORCID http://orcid.org/0009-0001-6767-4478
Masaki YamamotoDepartment of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan.ORCID http://orcid.org/0000-0002-0288-7990
Shoji SaitoDepartment of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.ORCID http://orcid.org/0000-0003-3866-3582
Yuji YamadaChildren's Cancer Center, NCCHD, Tokyo, Japan.ORCID http://orcid.org/0000-0003-1624-4002
Toru UchiyamaDepartment of Human Genetics, NCCHD, Tokyo, Japan.ORCID http://orcid.org/0000-0001-9610-0900
Kumiko YanagiDepartment of Genome Medicine, NCCHD, Tokyo, Japan.ORCID http://orcid.org/0000-0001-6961-0438
Tadashi KanameDepartment of Genome Medicine, NCCHD, Tokyo, Japan.ORCID http://orcid.org/0000-0003-0281-9610
Shinji KunishimaDepartment of Medical Technology, School of Health Sciences, Gifu University of Medical Science, Gifu, Japan.ORCID http://orcid.org/0000-0001-9212-0082
Akira IshiguroCenter for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), Tokyo, Japan. ishiguro.feivel91@gmail.com.ORCID http://orcid.org/0000-0002-3896-5313

Funding

Japan Agency for Medical Research and Development 19ek0109366h0002Japan Agency for Medical Research and Development 20ek0109366h003Japan Agency for Medical Research and Development JP24gn0110081
6 · The paper itself

Abstract

CYCS encodes somatic cytochrome c, which plays a central role in the electron transport chain and oxidative phosphorylation. We report nine cases of autosomal dominant, non-syndromic CYCS-related thrombocytopenia in three Japanese families. Patients showed no or mild bleeding tendency, with preserved platelet size and morphology, and without other abnormalities in blood cell lineages. Using targeted gene sequencing for congenital thrombocytopenia, we identified pathogenic missense variants in CYCS, shared by all affected individuals in each family. Two were previously reported: c.274A > G,p.(Arg92Gly) and c.309C > T,p.(Thr103Ile); one was novel: c.212A > C,p.(Asn71Thr). Genetic testing should be considered in unexplained familial thrombocytopenia.

Indexed as

Mutation, MissenseThrombocytopeniaAdultEast Asian PeopleFemaleHumansJapanMaleMiddle AgedPedigreeAsymptomaticCYCSFamilialThrombocytopenia

Identifiers

PMID41455048

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.