JBCGenetics |

Case Report

Volume: 3 | Issue: 1 | Published: May 16, 2020 | Pages: 22 - 27 | DOI: 10.24911/JBCGenetics/183-1585816398

Harel-Yoon syndrome: the first case report from Saudi Arabia

Authors: Alaa AlAyed , Manar A. Samman , Abdul Ali Peer-Zada , Mohammed Almannai

Article Info

Authors

Alaa AlAyed

Section of Medical Genetics, Children&apos;s Hospital, King Fahad Medical City, Riyadh, Saudi Arabia

Manar A. Samman

Pathology and Clinical Laboratory Medicine Administration, Section of Molecular Pathology, King Fahad Medical City, Riyadh, Saudi Arabia

Abdul Ali Peer-Zada

Pathology and Clinical Laboratory Medicine Administration, Section of Molecular Pathology, King Fahad Medical City, Riyadh, Saudi Arabia

Mohammed Almannai

Section of Medical Genetics, Children&apos;s Hospital, King Fahad Medical City, Riyadh, Saudi Arabia

Publication History

Received: April 07, 2020

Revised: April 19, 2020

Accepted: April 30, 2020

Published: May 16, 2020

Abstract

Background: Harel-Yoon syndrome (HAYOS) is a recently described, rare neurodevelopmental disorder characterized by developmental delay, hypotonia, appendicular hypertonia, axonal neuropathy, and other variable features, such as spasticity and optic atrophy. With only a few reports in the literature, both heterozygous and homozygous mutations have been reported in ATPase Family AAA Domain Containing 3A (ATAD3A). Case Presentation: Herein, we present the first case of HAYOS in Saudi Arabia. A 3-month-old girl presented with global developmental delay, hypotonia, bilateral severe sensorineural hearing loss, and vision impairment. Brain magnetic resonance imaging showed mild brain atrophy and delayed myelination. Laboratory tests showed high serum lactate and increased urinary excretion of 3-hydroxy methyl glutaconic acid. Whole exome sequencing revealed a pathogenic heterozygous variant in ATAD3A gene (c.1726C>T; p. R576W: NM_018188.4 or c.1582C>T; p. R528W: NM_001170535.1) which is the same recurrent variant reported in patients with the dominant form of HAYOS. Conclusion: Our report provides further evidence of the clinical relevance of ATAD3A gene variant (c. 1726C>T; p. R576W) in the pathogenesis of HAYOS. The therapeutic options for HAYOS are limited to supportive measures as in other mitochondrial diseases.

Keywords: Mitochondrial disorder, HAYOS, ATAD3A, whole exome sequencing

Pubmed Style

Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai. Harel-Yoon syndrome: the first case report from Saudi Arabia. JBC Genetics. 2020; 16 (May 2020): 22-27. doi:10.24911/JBCGenetics/183-1585816398

Web Style

Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai. Harel-Yoon syndrome: the first case report from Saudi Arabia. https://www.jbcgenetics.com/index.php/articles/2147 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1585816398

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai. Harel-Yoon syndrome: the first case report from Saudi Arabia. JBC Genetics. (2020), [cited April 27, 2025]; 16 (May 2020): 22-27. doi:10.24911/JBCGenetics/183-1585816398

Harvard Style

Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai (2020) Harel-Yoon syndrome: the first case report from Saudi Arabia. JBC Genetics, 16 (May 2020): 22-27. doi:10.24911/JBCGenetics/183-1585816398

Chicago Style

Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai. "Harel-Yoon syndrome: the first case report from Saudi Arabia." 16 (2020), 22-27. doi:10.24911/JBCGenetics/183-1585816398

MLA (The Modern Language Association) Style

Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai. "Harel-Yoon syndrome: the first case report from Saudi Arabia." 16.May 2020 (2020), 22-27. Print. doi:10.24911/JBCGenetics/183-1585816398

APA (American Psychological Association) Style

Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai (2020) Harel-Yoon syndrome: the first case report from Saudi Arabia. , 16 (May 2020), 22-27. doi:10.24911/JBCGenetics/183-1585816398