Variants in ALX4 and their association with genitourinary defects.

ABSTRACT:

Background

Genitourinary anomalies occur in approximately 1% of humans, but in most cases, the cause is unknown. Aristaless-like homeobox 4 (ALX4) is an important homeodomain transcription factor. ALX4 mutations in humans and mouse have been associated with craniofacial defects and genitourinary anomalies such as cryptorchidism and epispadias.

Objectives

To investigate the presence and the functional impact of ALX4 variants in patients with genitourinary defects.

Materials and methods

Two separate patient cohorts were analyzed. One includes clinical exome-sequencing (ES) data from 7500 individuals. The other includes 52 ALX4 Sanger-sequenced individuals with bladder exstrophy-epispadias complex (BEEC). Dual luciferase assays were conducted to investigate the functiona

SUBMITTER: Chen CH 

PROVIDER: S-EPMC10318892 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature