Jacqueline A Odgis, Katie M Gallagher, Atteeq U Rehman, Priya N Marathe, Katherine E Bonini, Monisha Sebastin, Miranda Di Biase, Kaitlyn Brown, Nicole R Kelly, Michelle A Ramos, Amanda Thomas-Wilson, Saurav Guha, Volkan Okur, Mythily Ganapathi, Lama Elkhoury, Lisa Edelmann, Randi E Zinberg, Noura S Abul-Husn, George A Diaz, John M Greally, Sabrina A Suckiel, Vaidehi Jobanputra, Carol R Horowitz, Eimear E Kenny, Melissa P Wasserstein, Bruce D Gelb
The increased use of next-generation sequencing has expanded our understanding of the involvement and prevalence of mosaicism in genetic disorders. We describe a total of eleven cases: nine in which mosaic variants detected by genome sequencing (GS) and/or targeted gene panels (TGPs) were considered to be causative for the proband's phenotype, and two of apparent parental mosaicism. Variants were identified in the following genes: PHACTR1, SCN8A, KCNT1, CDKL5, NEXMIF, CUX1, TSC2, GABRB2, and SMARCB1. In addition, we identified one large duplication including three genes, UBE3A, GABRB3, and MAGEL2, and one large deletion including deletion of ARFGAP1, EEF1A2, CHRNA4, and KCNQ2...
March 2023: American Journal of Medical Genetics. Part A