Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura Cross, Kalliope Demetriou, Katy Drazba, Marina Dutra-Clarke, Matthew Edwards, Casie A Genetti, Dorothy K Grange, Scott E Hickey, Bertrand Isidor, Sébastien Küry, Herbert M Lachman, Alinoe Lavillaureix, Michael J Lyons, Carlo Marcelis, Elysa J Marco, Julian A Martinez-Agosto, Catherine Nowak, Antonio Pizzol, Marc Planes, Eloise J Prijoles, Evelise Riberi, Eric T Rush, Bianca E Russell, Rani Sachdev, Betsy Schmalz, Deborah Shears, David A Stevenson, Kate Wilson, Sandra Jansen, Bert B A de Vries, Cynthia J Curry
Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be defined, we describe a large cohort of children and adults with JdVS. This is a retrospective cohort study of 37 individuals from 34 families with disease-causing variants in PPM1D leading to JdVS. Clinical data were provided by treating physicians and/or families. Of the 37 individuals, 27 were male and 10 female, with median age 8...
July 2023: American Journal of Medical Genetics. Part A