%0 Case Reports
%T Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study.
%A Zhu R
%A Zhu M
%A Wang B
%A Chen E
%A Cai D
%A Yang Y
%A Liang Y
%A Su C
%A Wang D
%A Sun X
%A Huang L
%A Xie Y
%J BMC Med Genomics
%V 17
%N 1
%D 2024 Jan 24
%M 38267993
%F 3.622
%R 10.1186/s12920-024-01809-7
%X <B>BACKGROUND: </B>Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clinical diagnosis is complex and poses a challenge to clinicians.<BR><B>METHODS: </B>A foetus and a child from a 36-year-old pregnant woman with a birth history of abnormal children were enrolled in this study. Pregnant women undergo amniocentesis for prenatal diagnosis at the gestational age of 12+ 3 weeks. Chromosomal microarray (CMA) analysis and whole-exome sequencing (WES) were employed to investigate the chromosomal copy number and single gene variants. Literature retrieval and data analysis were performed for genotype and phenotype collection analysis.<BR><B>RESULTS: </B>No chromosomal abnormalities or CNVs were detected in the entire family through karyotype and familial CMA analyses. WES identified a nonsense pathogenic variant in CLCN5 of the X chromosome, c.1942 C > T (exon 11, NM_000084), which was inherited from his mother, who exhibited regular clinical features.<BR><B>CONCLUSIONS: </B>This study suggests that children with low-molecular-weight proteinuria and hypercalciuria should undergo prompt genetic testing to exclude Dent disease.