Work

Expanding the Phenotype: A Case Report of a Novel Alanyl-tRNA Synthetase 2 (AARS2) Homozygous Mutation in a 17-Month-Old Child

Year: 2025

Type: article

Abstract: Early developmental delay and progressive neurological symptoms are red flags when evaluating infants in neurology clinics. Early assessment and management are essential to improve outcomes, with genetic testing being a cornerstone. Even if initial genetic results were not suggestive, revisiting the reported variant and comparing it to the newly published reports of different phenotypes helps establish the clinical diagnosis, as the authors report in this case of a 17-month-old child who presented with global developmental delay and hypotonia and was found to have Alanyl-tRNA Synthetase 2 (AARS2) gene mutation that was deemed as variant of uncertain significance but now is believed to be pathogenic and responsible for her evolving clinical manifestations.

Source: Cureus

DOI: 10.7759/cureus.86330

Authors: Hadi A Helali, Samar Almuntaser

Institution: Al Jalila Foundation

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4411460640