Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.

"the datasets supporting this study were submitted to japanese genotype-phenotype archive (jga) (accession number jgas000325).; data availability the targeted deep sequencing datasets are available in jga under accession number jgas000325. data availability the targeted deep sequencing datasets are available in jga under accession number jgas000325"

"Declarations Competing interestThe authors have no competing interests to declare that are relevant to the content of this article. Ethical approvalAll procedures performed in studies involving human participants were approved by the Human Genome, Gene Analysis Research Ethics Committee at UT (approval number, G10028) and the Ethics Committee at TMU (approval number, T2020-0051). All experiments involving genetically modified organisms were approved by the Committee on Genetically Modified Organisms at UT (approval number 37-5) and the Gene Modification Experiments Safety Committee at Osaka University (approval number 04294). All animal experiments were conducted in accordance with the guidelines and approved protocols for animal care and use (approval number FBS-14–002-1) at Osaka University. Competing interest The authors have no competing interests to declare that are relevant to the content of this article."

"Funding This work was supported by the Japan Society for the Promotion of Science (21H03041 to N.S., 19K09473 to S. Miyawaki, and 19J12355 to H.H.); The Mochida Memorial Foundation for Medical and Pharmaceutical Research (to S. Miyawaki); and The Kato Memorial Trust for Nambyo Research (to M. Kurita)."