Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.

ABSTRACT:

Background

An underlying monogenic cause of early-onset chronic kidney disease (CKD) can be detected in ∼20% of individuals. For many etiologies of CKD manifesting before 25 years of age, >200 monogenic causative genes have been identified to date, leading to the elucidation of mechanisms of renal pathogenesis.

Methods

In 51 families with echogenic kidneys and CKD, we performed whole-exome sequencing to identify novel monogenic causes of CKD.

Results

We discovered a homozygous truncating mutation in the transcription factor gene transcription factor CP2-like 1 (TFCP2L1) in an Arabic patient of consanguineous descent. The patient developed CKD by the age of 2 months and had episodes of severe hypochloremic, hyponatremic and hypokalemic alkalosis, seizures, developmenta

SUBMITTER: Klambt V 

PROVIDER: S-EPMC7834595 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature