Article
DHX16-Associated Neuromuscular Oculoauditory Syndrome: A Novel Case.
American journal of medical genetics. Part A - 1 Sept 2025
Clay Sloane, Leon Alejandro, Wall Luke A, Zambrano Regina M
Abstract excerpt
DHX16, a member of the DexD/H-box RNA helicase family, facilitates ATP-dependent unwinding of RNA secondary structures. Pathogenic variants cause poor functioning of the spliceosome complex leading to intron retention in gene transcripts. Clinically, it is associated with neuromuscular oculoauditory syndrome (MIM #618733). To date, there are nine published cases. We report a tenth case: a 3-year-old female,...
Topics
- Humans
- Female
- Child, Preschool
- RNA Helicases
- Exome Sequencing
- Neuromuscular Diseases
- Phenotype
- Syndrome
- Developmental Disabilities
- Mutation