A homozygous HOXA11 variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract. Issue 4 (23rd September 2020)

• Record Type: Journal Article
• Authors: Saygili, Seha; Atayar, Emine; Canpolat, Nur; Elicevik, Mehmet; Kurugoglu, Sebuh; Sever, Lale; Caliskan, Salim; Ozaltin, Fatih
• Is Part Of: Clinical genetics. Volume 98:Issue 4(2020)
• Page Start: 390
• Page End: 395
• Publication Date: 2020-09-23
• Subjects: HOXA11 -- monogenic CAKUT -- vesicoureteral reflux -- whole‐exome sequencing; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13813
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) is the leading cause of end‐stage kidney disease in children. Until now, more than 50 monogenic causes for CAKUT have been described, all of which only explain 10% to 20% of all patients with CAKUT, suggesting the presence of additional genes that cause CAKUT when mutated. Herein, we report two siblings of a consanguineous family with CAKUT, both of which rapidly progressed to chronic kidney disease in early childhood. Whole‐exome sequencing followed by homozygosity mapping identified a homozygous variation in HOXA11. We therefore showed for the first time an association between a homozygous HOXA11 variation with CAKUT in humans, expanding the genetic spectrum of the disease. Abstract :