Figure 1: Identification of TRAF3IP1 mutations in patients with nephronophthisis and retinal degeneration.
From: Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization
Periodic acid schiff (a), trichrome (b) and silver methenamine (c) staining on kidney sections from individual NPH302-23 (a,b) and NPH1110-22 (c) revealed massive interstitial fibrosis (arrow heads) with cell infiltration, atrophic tubules with thickening of the basement membrane (arrows), as well as dilatation of proximal tubules (asterisks), characteristic of NPH. Scale bar, 50 μm. (d) Fundus photograph of individual NPH1110-22 showed characteristic aspects of RP, with pigmentary reorganization, papillary pallor and thin retinal vessels. (e) Left hand X-ray of individual NPH1110-22 showing short fingers (brachydactyly). (f) Organization of exons of TRAF3IP1 cDNA (top panel) and functional domains of IFT54 protein with an N-terminal calponin homology (CH) domain involved in tubulin binding, an Arginine-rich motif and a C-terminal coiled-coil domain involved in IFT20 binding. Black bars indicate positions of the identified mutations. Family numbers are underlined. H, homozygous; h, heterozygous.
