ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

ABSTRACT:

Purpose

ARID1B is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods

Data on patients aged 18+ years with ARID1B-related disorder were collected through an online questionnaire completed by clinicians and parents.

Results

Eighty-seven adult patients with ARID1B were included. Cognitive functioning ranged from borderline to severe intellectual disability. Patients identified through the genetic workup of their child were either mosaic or had a variant in exon 1. New clinical features identified in this popul

SUBMITTER: van der Sluijs PJ 

PROVIDER: S-EPMC11613905 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature