Evidence map›Paper›PMID 39843638›Full record

ArticleJournal of human genetics2025

Clinical and genetic spectrum of patients with IRF2BPL syndrome.

Kazuhiro Iwama, Mitsuhiro Kato, Yuri Uchiyama, Masamune Sakamoto, Ryosuke Miyamoto, Yuishin Izumi, Kei Ohashi, Ayako Hattori, Noboru Yoshida, Yoshiteru Azuma and 21 more

Abstract read
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Article in Journal of human genetics, 2025. 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
–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

2 citing papers in PubMed.

  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

31 authors.

Kazuhiro IwamaDepartment of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Mitsuhiro KatoDepartment of Pediatrics, Showa University School of Medicine, Tokyo, Japan.ORCID http://orcid.org/0000-0003-1485-8553
Yuri UchiyamaDepartment of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.ORCID http://orcid.org/0000-0002-4540-5277
Masamune SakamotoDepartment of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Ryosuke MiyamotoDepartment of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Yuishin IzumiDepartment of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Kei OhashiDepartment of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Ayako HattoriDepartment of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.ORCID http://orcid.org/0000-0003-2639-424X
Noboru YoshidaDepartment of Pediatrics, Juntendo University Nerima Hospital, Tokyo, Japan.
Yoshiteru AzumaDepartment of Pediatrics, Aichi Medical University, Nagakute, Japan.
Akito WatanabeDepartment of Pediatrics, Shizuoka Institute of Epilepsy and Neurological Disorders, National Epilepsy Center, Shizuoka, Japan.
Chizuru IkedaDepartment of Pediatrics, Kumamoto Saishunso National Hospital, Koshi, Kumamoto, Japan.
Yuko Shimizu-MotohashiDepartment of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Shohei KusabirakiDepartment of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Eiji NakagawaDepartment of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Masayuki SasakiDepartment of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Kenji SugaiDepartment of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Sachiko OhoriDepartment of Laboratory Medicine, St. Marianna University School of Medicine, Kawasaki, Japan.ORCID http://orcid.org/0009-0001-9454-4556
Naomi TsuchidaDepartment of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.ORCID http://orcid.org/0000-0001-7203-884X
Kohei HamanakaDepartment of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Eriko KoshimizuDepartment of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.ORCID http://orcid.org/0000-0001-9947-3315
Atsushi FujitaDepartment of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.ORCID http://orcid.org/0000-0003-1572-1014
Mitsuko NakashimaDepartment of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.ORCID http://orcid.org/0000-0001-7941-1774
Satoko MiyatakeDepartment of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.ORCID http://orcid.org/0000-0001-7587-5168
Toru SengokuDepartment of Biochemistry, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.ORCID http://orcid.org/0000-0001-9461-8714
Kazuhiro OgataDepartment of Biochemistry, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.ORCID http://orcid.org/0000-0003-2952-3027
Shinji SaitohDepartment of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.ORCID http://orcid.org/0000-0001-6911-3351
Hirotomo SaitsuDepartment of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.ORCID http://orcid.org/0000-0003-0723-0960
Shuichi ItoDepartment of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.ORCID http://orcid.org/0000-0002-5242-8987
Takeshi MizuguchiDepartment of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.ORCID http://orcid.org/0000-0003-4998-1244
Naomichi MatsumotoDepartment of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan. naomat@yokohama-cu.ac.jp.ORCID http://orcid.org/0000-0001-9846-6500

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a single-exon gene that is ubiquitously expressed in various tissues, including the brain. IRF2BPL encodes a transcription factor with two zinc-finger domains that potentially downregulate WNT signaling in the nervous system. Pathogenic IRF2BPL variants have been reported to cause developmental delay, seizures, myoclonus epilepsies, autistic spectrum disorder, and other neurodevelopmental disorders. Exome sequencing of 10 patients with developmental delay and/or epilepsy from nine families revealed nine pathogenic IRF2BPL variants, of which eight were novel: five missense, one in-frame indel, and three truncating variants. Using reported pathogenic and benign variants, we highlight here several regions of IRF2BPL that deviate in the frequency of pathogenic and benign variants. This study of detailed clinical and genetic information shows that IRF2BPL missense and in-frame indel variants are often associated with seizures and developmental delay.

Indexed as

Developmental DisabilitiesEpilepsyGenetic Predisposition to DiseaseAdolescentChildChild, PreschoolExome SequencingFemaleHumansINDEL MutationInfantMaleMutation, MissenseSeizures

Identifiers

PMID39843638

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.