Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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.

PubMed Disclaimer

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

Similar articles

  • More dissimilarities than affinities between DNAJB11-PKD and ADPKD.
    Pisani I, Allinovi M, Palazzo V, Zanelli P, Gentile M, Farina MT, Giuliotti S, Cravedi P, Delsante M, Maggiore U, Fiaccadori E, Manenti L. Pisani I, et al. Clin Kidney J. 2022 Jan 31;15(6):1179-1187. doi: 10.1093/ckj/sfac032. eCollection 2022 Jun. Clin Kidney J. 2022. PMID: 35664268 Free PMC article.
  • Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
    Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrézet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Férec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS, Khalili K, Pei Y, Somlo S, Le Meur Y, Torres VE; Genkyst Study Group; HALT Progression of Polycystic Kidney Disease Group; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease; Harris PC. Cornec-Le Gall E, et al. Am J Hum Genet. 2018 May 3;102(5):832-844. doi: 10.1016/j.ajhg.2018.03.013. Epub 2018 Apr 26. Am J Hum Genet. 2018. PMID: 29706351 Free PMC article.
  • Autosomal Recessive Polycystic Kidney Disease.
    Subramanian S, Leslie SW, Ahmad T. Subramanian S, et al. 2024 Mar 3. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. 2024 Mar 3. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 30725822 Free Books & Documents.
  • Emerging Therapies for Childhood Polycystic Kidney Disease.
    Sweeney WE Jr, Avner ED. Sweeney WE Jr, et al. Front Pediatr. 2017 Apr 19;5:77. doi: 10.3389/fped.2017.00077. eCollection 2017. Front Pediatr. 2017. PMID: 28473970 Free PMC article. Review.
  • ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies.
    Bergmann C. Bergmann C. Pediatr Nephrol. 2015 Jan;30(1):15-30. doi: 10.1007/s00467-013-2706-2. Epub 2014 Mar 1. Pediatr Nephrol. 2015. PMID: 24584572 Free PMC article. Review.
See all similar articles

Cited by

  • More dissimilarities than affinities between DNAJB11-PKD and ADPKD.
    Pisani I, Allinovi M, Palazzo V, Zanelli P, Gentile M, Farina MT, Giuliotti S, Cravedi P, Delsante M, Maggiore U, Fiaccadori E, Manenti L. Pisani I, et al. Clin Kidney J. 2022 Jan 31;15(6):1179-1187. doi: 10.1093/ckj/sfac032. eCollection 2022 Jun. Clin Kidney J. 2022. PMID: 35664268 Free PMC article.
  • Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
    Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Claus LR, et al. Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19. Kidney Int. 2023. PMID: 37598857 Free PMC article.
  • Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
    Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC. Senum SR, et al. Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9. Am J Hum Genet. 2022. PMID: 34890546 Free PMC article.

References

    1. Al-Hamed MH, Alsahan N, Rice SJ, Edwards N, Nooreddeen E, Alotaibi M, et al. Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families. Pediatr Nephrol. 2019;34((9)):1615–23. - PubMed
    1. Alzarka B, Morizono H, Bollman JW, Kim D, Guay-Woodford LM. Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases. Front Pediatr. 2017;5:80. - PMC - PubMed
    1. Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE. Polycystic kidney disease. Nat Rev Dis Primers. 2018;4((1)):50. - PMC - PubMed
    1. Cornec-Le Gall E, Audrézet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, et al. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol. 2013;24((6)):1006–13. - PMC - PubMed
    1. Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, et al. Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. Am J Hum Genet. 2018;102((5)):832–44. - PMC - PubMed

Publication types