title: Recessive mutations in CAKUT and VACTERL association.
abstract: Understanding the complex genetic makeup underlying congenital anomalies of the kidney and urinary tract (CAKUT) is of primary importance to improve diagnosis, stratify risk for later-onset complications, and develop therapeutic strategies. Saisawat et al. used homozygosity mapping coupled with next-generation sequencing to identify recessive mutations in TRAP1 in families with isolated CAKUT and with VACTERL association. This study points to a novel player in kidney development, possibly affecting apoptosis and endoplasmic reticulum stress signaling.
authors.affiliation: 1] Division of Nephrology, Columbia University, New York, New York, USA [2] Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Rik
authors.initials: R
authors.lastname: Westland
authors.affiliation: Division of Nephrology, Columbia University, New York, New York, USA.
authors.forename: Simone
authors.initials: S
authors.lastname: Sanna-Cherchi
mesh_terms: D001003:Anal Canal / Q000002:abnormalities*; D000818:Animals; D004252:DNA Mutational Analysis; D004947:Esophagus / Q000002:abnormalities*; D055354:Exosomes; D005260:Female; D005820:Genetic Testing; D018841:HSP90 Heat-Shock Proteins; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D009154:Mutation; D013131:Spine / Q000002:abnormalities*; D014132:Trachea / Q000002:abnormalities*; D014564:Urogenital Abnormalities; D014718:Vesico-Ureteral Reflux / Q000235:genetics*
chemical_list: D018841:HSP90 Heat-Shock Proteins; C092306:TRAP1 protein, human