Article
Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum.
Ophthalmic genetics - 1 Jun 2023
Tawfik Caroline Atef, Zaitoun Raghda, Farag Aliaa Ahmed
Abstract excerpt
BACKGROUND: Harel-Yoon syndrome (HAYOS) is a recently described neurodevelopmental disorder characterized by psychomotor delay, truncal hypotonia, appendicular spasticity, and peripheral neuropathy. It is caused by mutations in ATAD3A gene located on chromosome 1p.36.33 whose functions include mitochondrial DNA stabilization, the regulation of mitochondrial fission/fusion, and cholesterol homeostasis. MATERIALS...
Topics
- Male
- Humans
- Muscle Hypotonia
- Mutation
- Mitochondria
- Electroretinography
- Fundus Oculi
- Phenotype
- Nervous System Malformations
- Tomography, Optical Coherence
- ATPases Associated with Diverse Cellular Activities