A homozygousHOXA11variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract
CLINICAL GENETICS, vol.98, no.4, pp.390-395, 2020 (SCI-Expanded, Scopus)
- 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
- Istanbul University Affiliated: Yes
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 inHOXA11.We therefore showed for the first time an association between a homozygousHOXA11variation with CAKUT in humans, expanding the genetic spectrum of the disease.