Lisa Jean Ewans, Alison Colley, Carles Gaston-Massuet, Angelica Gualtieri, Mark J Cowley, Mark James McCabe, Deepti Anand, Salil A Lachke, Luigi Scietti, Federico Forneris, Ying Zhu, Kevin Ying, Corrina Walsh, Edwin P Kirk, David Miller, Cecilia Giunta, David Sillence, Marcel Dinger, Michael Buckley, Tony Roscioli
BACKGROUND: Pathogenic PLOD3 variants cause a connective tissue disorder (CTD) that has been described rarely. We further characterise this CTD and propose a clinical diagnostic label to improve recognition and diagnosis of PLOD3 -related disease. METHODS: Reported PLOD3 phenotypes were compared with known CTDs utilising data from three further individuals from a consanguineous family with a homozygous PLOD3 c.809C>T; p.(Pro270Leu) variant. PLOD3 mRNA expression in the developing embryo was analysed for tissue-specific localisation...
September 2019: Journal of Medical Genetics