Harel-Yoon syndrome caused by a novel variant in ATAD3A: A case report.

OBJECTIVES

To describe the clinical feature of a very recently identified phenotype associated with ATAD3A variation.

METHODS

A neonate with Harel-Yoon syndrome was identified. We describe the proband's clinical and radiological features. The affected newborn and her parents underwent whole-exome sequencing and PCR-Sanger sequencing.

RESULTS

Previously reported clinical manifestations were rare in the neonatal period, including unmanageable seizures necessitating the use of multiple drugs, congenital laryngeal stridor, hypotonia, challenges with feeding, corneal opacity, and subsequent demise due to respiratory failure. Molecular investigations have unveiled the presence of a newly identified heterozygous single-base substitution (c.1517A > C; p.Q506P) within the ATAD3A gene.

DISCUSSION: This study unveils a novel single-base substitution, thereby expanding the mutation spectrum associated with ATAD3A. Furthermore, the clinical characteristics exhibited during the neonatal phase are comprehensively described, potentially facilitating improved clinical recognition of ATAD3A-associated HAYOS.