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Biallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family

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dc.contributor.authorARMAN, AHMET
dc.contributor.authorsAtes, Esra Arslan; Turkyilmaz, Ayberk; Delil, Kenan; Alavanda, Ceren; Soylemez, Mehmet Ali; Geckinli, Bilgen Bilge; Ata, Pinar; Arman, Ahmet
dc.date.accessioned2022-03-14T09:53:09Z
dc.date.available2022-03-14T09:53:09Z
dc.date.issued2021
dc.description.abstractPolycystic 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.
dc.identifier.doi10.1159/000513611
dc.identifier.eissn1661-8777
dc.identifier.issn1661-8769
dc.identifier.pubmed34177435
dc.identifier.urihttps://hdl.handle.net/11424/243535
dc.identifier.wosWOS:000638045000001
dc.language.isoeng
dc.publisherKARGER
dc.relation.ispartofMOLECULAR SYNDROMOLOGY
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectDNAJB11
dc.subjectWhole-exome sequencing
dc.subjectNephrology
dc.subjectGenetic counseling
dc.subjectPolycystic kidney disease
dc.titleBiallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family
dc.typearticle
dspace.entity.typePublication
local.avesis.id22e707fa-a8b1-45c1-a63f-2a059bbfd10f
local.import.packageSS16
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages7
oaire.citation.endPage185
oaire.citation.issue3
oaire.citation.startPage179
oaire.citation.titleMOLECULAR SYNDROMOLOGY
oaire.citation.volume12
relation.isAuthorOfPublicationaeb6705c-76c3-423f-bf49-bf3e1bb0edf1
relation.isAuthorOfPublication.latestForDiscoveryaeb6705c-76c3-423f-bf49-bf3e1bb0edf1

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