Genetic Landscape of Opsoclonus-Myoclonus-Ataxia Syndrome in Children.

ABSTRACT:

Background

Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neurological disorder, with involuntary rapid saccadic conjugate eye movements as one of characteristics, primarily affecting the cerebellum. While the exact pathogenesis remains unclear, genetic and autoimmune factors have been suggested to contribute to its development.

Methods

We enrolled patients diagnosed with OMAS before the age of 18 years at a pediatric neuroimmunology clinic in Boston, United States, using the 2004 Genoa Criteria. Whole genome sequencing was conducted for the patients and their biological parents in all cases, with one case including an unaffected twin sibling.

Results

De novo germline variants (DNVs) in probands were identified and validated and analyses of structural variants,

SUBMITTER: Gorman MP 

PROVIDER: S-EPMC12476522 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature