Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.

ABSTRACT:

Background

This study aimed to use whole-exome sequencing (WES) to diagnose ultra-rare renal diseases and the clinical impact of such an approach on patient care.

Methods

Clinical, radiological, pathological, and genetic findings were reviewed in the patients and their family members.

Results

Nine patients from nine unrelated Korean families were included in the study and evaluated. WES identified eight different conditions in these patients, i.e., autosomal dominant tubulointerstitial kidney disease associated with UMOD mutation; recurrent urinary stones associated with APRT deficiency; Ayme-Gripp syndrome associated with MAF mutation; short rib-thoracic dysplasia associated with IFT140 mutation; renal coloboma syndrome associated with PAX2 mutations; idiopathic infa

SUBMITTER: Jung J 

PROVIDER: S-EPMC8254264 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature