Peer Arts, Jessica Garland, Alicia B Byrne, Tristan S E Hardy, Milena Babic, Jinghua Feng, Paul Wang, Thuong Ha, Sarah L King-Smith, Andreas W Schreiber, April Crawford, Nick Manton, Lynette Moore, Christopher P Barnett, Hamish S Scott
Autosomal dominant (de novo) mutations in PBX1 are known to cause congenital abnormalities of the kidney and urinary tract (CAKUT), with or without extra-renal abnormalities. Using trio exome sequencing, we identified a PBX1 p.(Arg107Trp) mutation in a deceased one-day-old neonate presenting with CAKUT, asplenia, and severe bilateral diaphragmatic thinning and eventration. Further investigation by droplet digital PCR revealed that the mutation had occurred post-zygotically in the father, with different variant allele frequencies of the mosaic PBX1 mutation in blood (10%) and sperm (20%)...
March 6, 2020: American Journal of Medical Genetics. Part A