ArticleHeliyon2024
Harel-Yoon syndrome caused by a novel variant in ATAD3A: A case report.
Article in Heliyon, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- [A case of Harel-Yoon syndrome with seizures caused by anZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Clinical characteristics and induced pluripotent stem cells (iPSCs) disease model of Harel-Yoon syndrome caused by compound heterozygous ATAD3A variants.Human cell · 2025Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
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