Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance

Studies have previously implicated PRRX1 in craniofacial development, including demonstration of murine Prrx1 expression in the preosteogenic cells of the cranial sutures. We investigated the role of heterozygous missense and loss-of-function (LoF) variants in PRRX1 associated with craniosynostosis....

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Veröffentlicht in:	Genetics in Medicine Open 2023-09, Vol.25 (9), p.100883, Article 100883
Hauptverfasser:	Tooze, Rebecca S., Miller, Kerry A., Swagemakers, Sigrid M.A., Calpena, Eduardo, McGowan, Simon J., Boute, Odile, Collet, Corinne, Johnson, David, Laffargue, Fanny, de Leeuw, Nicole, Morton, Jenny V., Noons, Peter, Ockeloen, Charlotte W., Phipps, Julie M., Tan, Tiong Yang, Timberlake, Andrew T., Vanlerberghe, Clemence, Wall, Steven A., Weber, Astrid, Wilson, Louise C., Zackai, Elaine H., Mathijssen, Irene M.J., Twigg, Stephen R.F., Wilkie, Andrew O.M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Base Sequence Cranial Sutures - pathology Craniosynostoses - genetics Craniosynostosis fluorescent antibody technique genes Genes, Homeobox haploinsufficiency heterozygosity Homeodomain Homeodomain Proteins - genetics Humans Life Sciences loss-of-function mutation medicine Mice mutants Nuclear localization Paired-related homeobox Penetrance PRRX1/PRX1
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