DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

ABSTRACT:

Purpose

Haploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in patients with DYRK1A variants.

Methods

A large database of clinical exome sequencing (ES) was queried for de novo DYRK1A variants and CAKUT/GD phenotypes were characterized. Xenopus laevis (frog) was chosen as a model organism to assess Dyrk1a's role in renal development.

Results

Phenotypic details and variants of 19 patients were compiled after an initial observation that one patient with a de novo pathogenic variant in DYRK1A had GD. CAKUT/GD data were available from 15 patients, 11 of whom presented with CAKUT/GD. Studies in Xenopus embryos demonstrated that kn

SUBMITTER: Blackburn ATM 

PROVIDER: S-EPMC6895419 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature