Harel-Yoon syndrome

Definition:

Harel-Yoon syndrome (HAYOS) is a neurological syndrome characterized by global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. It has been reported that HAYOS is caused by mutations in ATAD3A, encoding a mitochondrial membrane protein. ATAD3A is implicated in mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism.

References:

[1]. Tamar Harel, et al. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 6;99(4):831-845. [Content Brief]

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