Evidence map›Paper›PMID 41162587›Full record

ArticleEuropean journal of human genetics : EJHG2026

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.

Maki Iwai, Kyra E Stuurman, Kirsten Meagher, Lise A Leveille, Takashi Saisu, Satomi Mori, Tatsuro Kumaki, Yumi Enomoto, Noriko Aida, Hisato Suzuki and 5 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2026. 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. New year, new insights in genomic medicine.European journal of human genetics : EJHG · 2026
    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.

Maki Iwai *Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Kyra E Stuurman *Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.
Kirsten MeagherDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Lise A LeveilleDepartment of Orthopaedic Surgery, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
Takashi SaisuDepartment of Pediatric Orthopaedics, Chiba Child & Adult Orthopaedic Clinic, Chiba, Japan.
Satomi MoriDepartment of General Medicine, Kanagawa Children's Medical Center, Yokohama, Japan.ORCID 0000-0002-8026-6954
Tatsuro KumakiDivision of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Yumi EnomotoClinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
Noriko AidaDepartment of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan.
Hisato SuzukiCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Toshiki TakenouchiCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.ORCID 0000-0002-7311-4135
Kenjiro KosakiCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Millan S PatelDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.ORCID 0000-0001-7061-6837
Kenji KurosawaDivision of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. kurosawa-k@ncchd.go.jp.ORCID 0000-0002-6817-7748
Gen NishimuraDepartment of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.

Funding

Japan Agency for Medical Research and Development (AMED) 20ek0109301Ministry of Health, Labour and Welfare (Ministry of Health, Labour and Welfare, Japan) 23FC1052National Center for Child Health and Development (NCCHD) 2025A-1
6 · The paper itself

Abstract

There have been several reports on heterozygous loss of function variants in PBX1 associated with congenital anomalies of the kidney and urinary tract (CAKUT). We report three patients harboring de novo heterozygous missense variants in PBX1, who did not have CAKUT, but instead presented with respiratory failure, developmental delay, and, the most important, a unique skeletal phenotype characterized by broad and short clavicles with coracoclavicular ankylosis and broad ischia with premature fusion of the ischiopubic synchondrosis. All the variants are clustered at the last portion of the homeobox domain. This phenotype is consistent with mouse models with functional dysregulation in Pbx1 or its interacting factor, Emx2. This study highlights a previously not reported phenotype affecting the clavicles and ischia due to PBX1 variants and expands the clinical spectrum of PBX1-related disorders.

Indexed as

Mutation, MissensePre-B-Cell Leukemia Transcription Factor 1HumansPhenotypeProtein DomainsPBX1 protein, humanPre-B-Cell Leukemia Transcription Factor 1

Identifiers

PMID41162587
PMCPMC12816583

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.