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

被引：3

作者：

Ates, Esra Arslan ^{[1
]}

Turkyilmaz, Ayberk ^{[2
]}

Delil, Kenan ^{[3
]}

Alavanda, Ceren ^{[3
]}

Soylemez, Mehmet Ali ^{[3
]}

Geckinli, Bilgen Bilge ^{[3
]}

Ata, Pinar ^{[3
]}

Arman, Ahmet ^{[3
]}

机构：

[1] Marmara Univ, Pendik Training & Res Hosp, Dept Med Genet, Istanbul, Turkey

[2] Karadeniz Tech Univ, Sch Med, Dept Med Genet, Trabzon, Turkey

[3] Marmara Univ, Sch Med, Dept Med Genet, Istanbul, Turkey

来源：

MOLECULAR SYNDROMOLOGY | 2021年 / 12卷 / 03期

关键词：

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

D O I：

10.1159/000513611

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：179 / 185

页数：7

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