Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.

ABSTRACT:

Purpose

Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the leading cause of chronic kidney disease in children. In total, 174 monogenic causes of isolated or syndromic CAKUT are known. However, syndromic features may be overlooked when the initial clinical diagnosis of CAKUT is made. We hypothesized that the yield of a molecular genetic diagnosis by exome sequencing (ES) can be increased by applying reverse phenotyping, by re-examining the case for signs/symptoms of the suspected clinical syndrome that results from the genetic variant detected by ES.

Methods

We conducted ES in an international cohort of 731 unrelated families with CAKUT. We evaluated ES data for variants in 174 genes, in which variants are known to cause isolated or syndromic CAKUT.

SUBMITTER: Seltzsam S 

PROVIDER: S-EPMC8876311 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature