Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China.
Medicine (Baltimore). 2024 Aug 2;103(31):e39216. doi: 10.1097/MD.0000000000039216.
This study aims to report the clinical characteristics of a child with autosomal recessive polycystic kidney disease (ARPKD) within a Chinese Zhuang ethnic family.
We used whole exome sequencing (WES) in the family to examine the genetic cause of the disease. Candidate pathogenic variants were validated by Sanger sequencing.
We identified previously unreported mutations in the PKHD1 gene of the proband with ARPKD through WES: a splice site mutation c.6809-2A > T, a nonsense mutation c.4192C > T(p.Gln1398Ter), and a missense mutation c.2181T > G(p.Asn727Lys). Her mother is a heterozygous carrier of c.2181T > G(p.Asn727Lys) mutation. Her father is a carrier of c.6809-2A > T mutation and c.4192C > T(p.Gln1398Ter) mutation.
The identification of novel mutations in the PKHD1 gene through WES not only expands the spectrum of known variants but also potentially enhances genetic counseling and prenatal diagnostic approaches for families affected by ARPKD.
本研究旨在报告一个中国壮族家族中常染色体隐性多囊肾病（ARPKD）患儿的临床特征。
我们使用全外显子组测序（WES）在该家系中检查疾病的遗传原因。候选致病性变异通过 Sanger 测序进行验证。
我们通过 WES 鉴定了 ARPKD 先证者 PKHD1 基因中以前未报道的突变：剪接位点突变 c.6809-2A>T，无义突变 c.4192C>T(p.Gln1398Ter)，以及错义突变 c.2181T>G(p.Asn727Lys)。她的母亲是 ARPKD 的杂合子携带者，携带 c.2181T>G(p.Asn727Lys)突变。她的父亲是 c.6809-2A>T 突变和 c.4192C>T(p.Gln1398Ter)突变的携带者。
通过 WES 鉴定 PKHD1 基因中的新突变不仅扩展了已知变异体的范围，而且还可能增强了受 ARPKD 影响的家庭的遗传咨询和产前诊断方法。
