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#x3e;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.
Mol Syndromol

中文翻译：

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DNAJB11 中的双等位基因突变与土耳其家庭的产前多囊肾病有关

多囊肾病 (PKD) 是一种危及生命的疾病，会导致终末期肾病。根据继承模式定义了两种主要形式的公钥簿。常染色体显性遗传 PKD (ADPKD) 以肾囊肿为特征，其中近一半的患者在 7 岁后患有肾功能衰竭。常染色体隐性遗传 PKD (ARPKD) 是一种罕见且更严重的儿童期疾病。进行全外显子组测序 (WES) 分析以研究胎儿疾病的分子原因。在这项研究中，我们展示了一个近亲家庭中产前诊断为 PKD 的 2 个胎儿。第二个胎儿的 WES 分析揭示了DNAJB11中与 ADPKD 相关的纯合变异 (c.740+1G#x3e;A) 。该研究表明DNAJB11双等位基因突变可能导致产前严重的 ARPKD，有助于了解DNAJB11相关的 ADPKD 表型。遗传咨询应考虑 ADPKD 基因双等位基因突变导致 ARPKD 的可能性。
摩尔综合征