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Case Reports
. 2021 Jun;12(3):179-185.
doi: 10.1159/000513611. Epub 2021 Apr 1.

Biallelic Mutations in DNAJB11 are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family

Esra Arslan Ateş  1 , Ayberk Turkyilmaz  2 , Kenan Delil  3 , Ceren Alavanda  3 , Mehmet Ali Söylemez  3 , Bilgen Bilge Geçkinli  3 , Pinar Ata  3 , Ahmet Arman  3
Affiliations
Case Reports

Biallelic Mutations in DNAJB11 are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family

Esra Arslan Ateş et al. Mol Syndromol. 2021 Jun.

Abstract

Polycystic kidney disease (PKD) is a life-threatening condition resulting in end-stage renal disease. Two major forms of PKD are defined according to the inheritance pattern. Autosomal dominant PKD (ADPKD) is characterized by renal cysts, where nearly half of the patients suffers from renal failure in the 7th decade of life. Autosomal recessive PKD (ARPKD) is a rarer and more severe form presenting in childhood. Whole-exome sequencing (WES) analyses was performed to investigate molecular causes of the disease in the fetus. In this study, we present 2 fetuses prenatally diagnosed with PKD in a consanguineous family. WES analysis of the second fetus revealed a homozygous variant (c.740+1G>A) in DNAJB11 which is related to ADPKD. This study reveals that DNAJB11 biallelic mutations may cause an antenatal severe form of ARPKD and contributes to understanding the DNAJB11-related ADPKD phenotype. The possibility of ARPKD due to biallelic mutations in ADPKD genes should be considered in genetic counseling.

Keywords: DNAJB11; Genetic counseling; Nephrology; Polycystic kidney disease; Whole-exome sequencing.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
Pedigree of the family.
Fig. 2
Fig. 2
Genetic testing algorithm.
Fig. 3
Fig. 3
DNAJB11 (NM_016306) gene exon 7 − intron boundary. A novel homozygous c.740+1G>A variant in the fetus and heterozygous c.740+1G>A variant in the parents are shown.
See this image and copyright information in PMC

References

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