Lucy Loong, Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T Pagnamenta, Kerstin Alt, Helena Böhrer-Rabel, Alfonso Caro-Llopis, Trevor Cole, Felix Distelmaier, Patrick Edery, Carlos R Ferreira, Aleksandra Jezela-Stanek, Bronwyn Kerr, Gerhard Kluger, Peter M Krawitz, Marius Kuhn, Johannes R Lemke, Gaetan Lesca, Sally Ann Lynch, Francisco Martinez, Caroline Maxton, Hanna Mierzewska, Sandra Monfort, Joost Nicolai, Carmen Orellana, Deb K Pal, Rafał Płoski, Oliver W Quarrell, Monica Rosello, Małgorzata Rydzanicz, Ataf Sabir, Robert Śmigiel, Alexander P A Stegmann, Helen Stewart, Constance Stumpel, Elżbieta Szczepanik, Andreas Tzschach, Lynne Wolfe, Jenny C Taylor, Yoshiko Murakami, Taroh Kinoshita, Allan Bayat, Usha Kini
PURPOSE: Biallelic PIGN variants have been described in Fryns syndrome, multiple congenital anomalies-hypotonia-seizure syndrome (MCAHS), and neurologic phenotypes. The full spectrum of clinical manifestations in relation to the genotypes is yet to be reported. METHODS: Genotype and phenotype data were collated and analyzed for 61 biallelic PIGN cases: 21 new and 40 previously published cases. Functional analysis was performed for 2 recurrent variants (c.2679C>G p...
November 2, 2022: Genetics in Medicine: Official Journal of the American College of Medical Genetics