ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.

ABSTRACT: Biallelic variants in the adenosine deaminase tRNA specific 3 (ADAT3) gene are associated with a distinct neurodevelopmental disorder characterized by dysmorphic facies, poor growth, cognitive impairment, and variable brain anomalies. We describe 24 patients from 16 unrelated Egyptian families with ADAT3-related neurodevelopmental disorder. All patients presented with developmental delay, growth retardation, cognitive impairment, and the characteristic facial features of the disorder, which appears to be more recognizable in older patients. Seizures were noted in 20% of patients and showed favorable responses to treatment. Brain imaging showed corpus callosum abnormalities in most patients (91.6%), followed by delayed myelination and cortical atrophy. Exome sequencing identified three ADAT

SUBMITTER: Rafat K 

PROVIDER: S-EPMC12205074 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature