Case Report
JBCGenetics. 2020; 3(1): 22-27

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

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

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1585816398

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


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


Authors
Alaa AlAyed
Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Manar A Samman
Pathology and Clinical Laboratory Medicine Administration, Section of Molecular Pathology, King Fahad Medical City, Riyadh, Saudi Arabia
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Abdul Ali Peer-Zada
Pathology and Clinical Laboratory Medicine Administration, Section of Molecular Pathology, King Fahad Medical City, Riyadh, Saudi Arabia
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Mohammed Almannai
Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
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Correspondence to:
. Mohammed Almannai, Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; malmannai@kfmc.med.sa

Publication history
Received 07 Apr 2020
Revised 19 Apr 2020
Accepted 30 Apr 2020
Published online 16 May 2020
Published in print 27 May 2020

How to cite this article

Pubmed Style

AlAyed A, Samman MA, Peer-Zada AA, Almannai M. Harel-Yoon syndrome: the first case report from Saudi Arabia. JBCGenetics. 2020; 3(1): 22-27. doi:10.24911/JBCGenetics/183-1585816398


Web Style

AlAyed A, Samman MA, Peer-Zada AA, Almannai M. Harel-Yoon syndrome: the first case report from Saudi Arabia. https://www.jbcgenetics.com//?mno=96495 [Access: October 27, 2020]. doi:10.24911/JBCGenetics/183-1585816398


AMA (American Medical Association) Style

AlAyed A, Samman MA, Peer-Zada AA, Almannai M. Harel-Yoon syndrome: the first case report from Saudi Arabia. JBCGenetics. 2020; 3(1): 22-27. doi:10.24911/JBCGenetics/183-1585816398


Vancouver/ICMJE Style

AlAyed A, Samman MA, Peer-Zada AA, Almannai M. Harel-Yoon syndrome: the first case report from Saudi Arabia. JBCGenetics. (2020), [cited October 27, 2020]; 3(1): 22-27. doi:10.24911/JBCGenetics/183-1585816398


Harvard Style

AlAyed, A., Samman, . M. A., Peer-Zada, . A. A. & Almannai, . M. (2020) Harel-Yoon syndrome: the first case report from Saudi Arabia. JBCGenetics, 3 (1), 22-27. doi:10.24911/JBCGenetics/183-1585816398


Turabian Style

AlAyed, Alaa, Manar A. Samman, Abdul Ali Peer-Zada, and Mohammed Almannai. 2020. Harel-Yoon syndrome: the first case report from Saudi Arabia. Journal of Biochemical and Clinical Genetics, 3 (1), 22-27. doi:10.24911/JBCGenetics/183-1585816398


Chicago Style

AlAyed, Alaa, Manar A. Samman, Abdul Ali Peer-Zada, and Mohammed Almannai. "Harel-Yoon syndrome: the first case report from Saudi Arabia." Journal of Biochemical and Clinical Genetics 3 (2020), 22-27. doi:10.24911/JBCGenetics/183-1585816398


MLA (The Modern Language Association) Style

AlAyed, Alaa, Manar A. Samman, Abdul Ali Peer-Zada, and Mohammed Almannai. "Harel-Yoon syndrome: the first case report from Saudi Arabia." Journal of Biochemical and Clinical Genetics 3.1 (2020), 22-27. Print. doi:10.24911/JBCGenetics/183-1585816398


APA (American Psychological Association) Style

AlAyed, A., Samman, . M. A., Peer-Zada, . A. A. & Almannai, . M. (2020) Harel-Yoon syndrome: the first case report from Saudi Arabia. Journal of Biochemical and Clinical Genetics, 3 (1), 22-27. doi:10.24911/JBCGenetics/183-1585816398


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