Evidence map›Paper›PMID 40675981›Full record

ArticleHuman genome variation2025

Novel SKIC3 variants in tricho-hepato-enteric syndrome with hemochromatosis.

Kayo Ochiai, Yoshinori Aoki, Naoshi Yamada, Murasaki Aman, Atsushi Yamashita, Masatoshi Yamaguchi, Daisuke Nakato, Toshiki Takenouchi, Kenjiro Kosaki, Yuki Kodama and 1 more

Abstract read
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In one paragraph

Article in Human genome variation, 2025. 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

11 authors.

Kayo OchiaiDivision of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Yoshinori AokiDivision of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan. yoshinori_aoki@med.miyazaki-u.ac.jp.ORCID http://orcid.org/0009-0005-9071-1395
Naoshi YamadaPerinatal Center, University of Miyazaki Hospital, Miyazaki, Japan.
Murasaki AmanDivision of Pathophysiology, Department of Pathology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Atsushi YamashitaDivision of Pathophysiology, Department of Pathology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Masatoshi YamaguchiDivision of Clinical Genetics, University of Miyazaki, Miyazaki, Japan.ORCID http://orcid.org/0000-0003-3548-8176
Daisuke NakatoCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Toshiki TakenouchiDepartment of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Kenjiro KosakiCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Yuki KodamaPerinatal Center, University of Miyazaki Hospital, Miyazaki, Japan.
Hiroshi MoritakeDivision of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.ORCID http://orcid.org/0000-0001-5471-7646

Funding

Japan Agency for Medical Research and Development (AMED) JP24gn0110083Mother and Child Health Foundation (MCHF) R03-K1-12
6 · The paper itself

Abstract

Tricho-hepato-enteric syndrome (THES), a rare autosomal recessive disorder caused by variants in the SKIC3 or SKIC2 gene, is characterized by intractable diarrhea, woolly hair, growth restriction and liver disease. Here we report a neonatal case of THES with neonatal hemochromatosis, in which the novel compound heterozygous SKIC3 variants NM_014639.4:c.815_816del p.(Gly272AlafsTer9) and NM_014639.4:c.2284G>A p.(Gly762Arg) were identified. Further research is needed to elucidate the mechanisms underlying iron metabolism dysregulation in THES.

Identifiers

PMID40675981
PMCPMC12271341

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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.