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Article

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.

European journal of human genetics : EJHG - 1 Jan 2026

Iwai Maki, Stuurman Kyra E, Meagher Kirsten, Leveille Lise A, Saisu Takashi, Mori Satomi, Kumaki Tatsuro, Enomoto Yumi, Aida Noriko, Suzuki Hisato, Takenouchi Toshiki, Kosaki Kenjiro, Patel Millan S, Kurosawa Kenji, Nishimura Gen

Abstract excerpt

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...

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Share to PBX1 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41162587
DOI: 10.1038/s41431-025-01973-z
PMCID: PMC12816583

Genes

PBX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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