10.1371/journal.pgen.1007386.g001 Sara Gonçalves Sara Gonçalves Julie Patat Julie Patat Maria Clara Guida Maria Clara Guida Noelle Lachaussée Noelle Lachaussée Christelle Arrondel Christelle Arrondel Martin Helmstädter Martin Helmstädter Olivia Boyer Olivia Boyer Olivier Gribouval Olivier Gribouval Marie-Claire Gubler Marie-Claire Gubler Geraldine Mollet Geraldine Mollet Marlène Rio Marlène Rio Marina Charbit Marina Charbit Christine Bole-Feysot Christine Bole-Feysot Patrick Nitschke Patrick Nitschke Tobias B. Huber Tobias B. Huber Patricia G. Wheeler Patricia G. Wheeler Devon Haynes Devon Haynes Jane Juusola Jane Juusola Thierry Billette de Villemeur Thierry Billette de Villemeur Caroline Nava Caroline Nava Alexandra Afenjar Alexandra Afenjar Boris Keren Boris Keren Rolf Bodmer Rolf Bodmer Corinne Antignac Corinne Antignac Matias Simons Matias Simons Clinical phenotypes of affected individuals. Public Library of Science 2018 ADD 3 synergistically KAT 2B rescue KAT 2B mutation KAT 2B variant modulates ADD 3 KAT 2B mutations gene steroid-resistant nephrotic syndrome lysine acetyltransferase 2 B ADD 3 deficiency KAT 2B variant SRNS Drosophila KAT 2B protein levels 2018-05-16 17:56:15 Figure https://plos.figshare.com/articles/figure/Clinical_phenotypes_of_affected_individuals_/6278762 <p>(A, B) Individuals II-6 (A; family A) and II-4 (B; family B) both show short 4<sup>th</sup> and 5<sup>th</sup> metatarsals. (C) Individual II-6 (family A) shows thin corpus callosum in the brain MRI at 17 months as well as hand arachnodactyly in the skeletal radiography. (D) Individual II-4 (family B) shows partial agenesis of the corpus callosum in the brain MRI at 14 years as well as mid phalanx hypoplasia in digit V (arrow) in the skeletal radiography. (E) Kidney sections of affected individuals from family A. At 15 years old, 3 years after the proteinuria onset, individual II-3 showed mostly normal glomeruli but with hypertrophic podocytes (arrow) (left panel; methenamine-silver stain; 40x), while few glomeruli (middle panel) had segmental sclerosis of the glomerular tuft (arrow; trichrome stain; 40x). There were no major lesions of the tubular-interstitial compartment (left and middle). Individual II-6 (right panel) presented with end-stage renal disease at 13 years old and showed severe glomerulosclerosis of almost all the glomeruli with retraction of the glomerular tuft and hypertrophic podocytes (arrow) (methenamine-silver stain; 40x).</p>