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>