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

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 ge...

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Bibliographic Details
Published in:Clinical genetics 2020-10, Vol.98 (4), p.390-395
Main Authors: Saygili, Seha, Atayar, Emine, Canpolat, Nur, Elicevik, Mehmet, Kurugoglu, Sebuh, Sever, Lale, Caliskan, Salim, Ozaltin, Fatih
Format: Article
Language:English
Subjects:
Children
Congenital defects
Congenital diseases
Gene mapping
HOXA11
Kidney diseases
monogenic CAKUT
Urinary tract
Urogenital system
vesicoureteral reflux
whole‐exome sequencing
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Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13813