A homozygousHOXA11variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract

Saygili S., Atayar E., Canpolat N., ELİÇEVİK M., KURUĞOĞLU S., Sever L., ...More

CLINICAL GENETICS, vol.98, no.4, pp.390-395, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 98 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.1111/cge.13813
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.390-395
  • Istanbul University Affiliated: Yes


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 inHOXA11.We therefore showed for the first time an association between a homozygousHOXA11variation with CAKUT in humans, expanding the genetic spectrum of the disease.