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- Title
Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study.
- Authors
Zhu, Ruijue; Zhu, Mingming; Wang, Boye; Chen, Enen; Cai, Danlei; Yang, Yinghong; Liang, Yi; Su, Chuqi; Wang, Ding; Sun, Xiaofang; Huang, Linhuan; Xie, Yingjun
- Abstract
Introduction: 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. Methods: 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. Results: 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. Conclusion: This study suggests that children with low-molecular-weight proteinuria and hypercalciuria should undergo prompt genetic testing to exclude Dent disease.
- Subjects
PRENATAL diagnosis; DIAGNOSIS; EXCEPTIONAL children; GENETIC variation; X chromosome; RENAL tubular transport disorders
- Publication
BMC Medical Genomics, 2024, Vol 17, Issue 1, p1
- ISSN
1755-8794
- Publication type
Article
- DOI
10.1186/s12920-024-01809-7