%0 Figure %A Gonçalves, Sara %A Patat, Julie %A Guida, Maria Clara %A Lachaussée, Noelle %A Arrondel, Christelle %A Helmstädter, Martin %A Boyer, Olivia %A Gribouval, Olivier %A Gubler, Marie-Claire %A Mollet, Geraldine %A Rio, Marlène %A Charbit, Marina %A Bole-Feysot, Christine %A Nitschke, Patrick %A B. Huber, Tobias %A Wheeler, Patricia G. %A Haynes, Devon %A Juusola, Jane %A de Villemeur, Thierry Billette %A Nava, Caroline %A Afenjar, Alexandra %A Keren, Boris %A Bodmer, Rolf %A Antignac, Corinne %A Simons, Matias %D 2018 %T Clinical phenotypes of affected individuals. %U https://plos.figshare.com/articles/figure/Clinical_phenotypes_of_affected_individuals_/6278762 %R 10.1371/journal.pgen.1007386.g001 %2 https://plos.figshare.com/ndownloader/files/11487752 %K ADD 3 synergistically %K KAT 2B %K rescue %K KAT 2B mutation %K KAT 2B variant modulates %K ADD 3 %K KAT 2B mutations %K gene %K steroid-resistant nephrotic syndrome %K lysine acetyltransferase 2 B %K ADD 3 deficiency %K KAT 2B variant %K SRNS %K Drosophila %K KAT 2B protein levels %X

(A, B) Individuals II-6 (A; family A) and II-4 (B; family B) both show short 4th and 5th 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).

%I PLOS Genetics