Affiliation:
1. Department of Pediatrics Brooke Army Medical Center Fort Sam Houston Texas USA
2. Fulgent Genetics El Monte California USA
3. Division of Medical Genetics, Department of Pediatrics Brooke Army Medical Center Fort Sam Houston Texas USA
4. Department of Pediatrics UT Health San Antonio, Long School of Medicine San Antonio Texas USA
Abstract
AbstractHarel‐Yoon syndrome (HAYOS) is a unique neurodevelopmental genetic disorder characterized by hypotonia, spasticity, intellectual disability, hypertrophic cardiomyopathy, and global developmental delay. It primarily results from mutations in the ATAD3A gene, pivotal for mitochondrial function. This report presents a 5‐year‐old girl with HAYOS harboring a de novo heterozygous variant c.1064G>A; (p.G355D) in ATAD3A. Her clinical profile includes delayed milestones, hypotonia, spastic quadriplegia, and ptosis. Notably, dermatologic anomalies such as hypopigmentation, café au lait macules, and freckling are observed, expanding the known phenotype of HAYOS. The inclusion of dermatologic features challenges our understanding of the syndrome and emphasizes the importance of further research to elucidate the molecular connections between ATAD3A mutations and dermatologic manifestations.