Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study.

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

SUBMITTER: Zhu R 

PROVIDER: S-EPMC10809533 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature