A homozygous HOXA11 variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract

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Saygili S. K., Atayar E., Canpolat N., Elicevik M., Kurugoglu S., Sever L., ...More

Clinical Genetics, vol.98, no.4, pp.390-395, 2020 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 98 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.1111/cge.13813
  • Journal Name: Clinical Genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.390-395
  • Keywords: HOXA11, monogenic CAKUT, vesicoureteral reflux, whole-exome sequencing, CANDIDATE GENES, MORPHOGENESIS, ABSENCE, HOXA-11
  • Open Archive Collection: AVESIS Open Access Collection
  • Istanbul University-Cerrahpasa Affiliated: Yes

Abstract

© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons LtdCongenital 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.