The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.

ABSTRACT:

Background

TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628). Yet the developmental trajectory and progression of neurologic symptoms over time remains poorly understood.

Methods

We developed and distributed a survey to two closed Facebook groups devoted to families of patients with TBL1XR1-related disorder. The survey consisted of 14 subsections focused upon the developmental trajectories of cognitive, behavioral, motor, and other neurological abnormalities. Data were collected and managed using REDCap electronic data capture tools.

Results

Caregivers of 41 patients with a TBL1XR1-related disorder completed

SUBMITTER: Nagy A 

PROVIDER: S-EPMC10880200 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature