[article]
| Titre : |
Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy |
| Type de document : |
texte imprimé |
| Auteurs : |
Zhen LIU, Auteur ; Mei HE, Auteur ; Xuan LUO, Auteur ; Hu PAN, Auteur ; Juanli HU, Auteur ; Zhengqing WAN, Auteur ; Yin PENG, Auteur ; Yixiao LUO, Auteur ; Hua WANG, Auteur ; Xiao MAO, Auteur |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Humans Female Child, Preschool Atrophy/genetics Cerebellum/pathology/diagnostic imaging Heterozygote Cerebellar Diseases/genetics EEFSEC gene Developmental delay Oxidized lipids Progressive cerebellar atrophy Selenium Selenoproteins conducted in accordance with the Declaration of Helsinki and approved by the Institutional Review Board (IRB) of Hunan Provincial Maternal and Child Health Care Hospital. Written informed consent was obtained from the legal guardians of all participants involved in the study. The consent covered all facets of participation and data utilization. To ensure the protection of our patient’s and control subjects' privacy, all personal identifiers were removed from the study data. Consent for publication: We hereby clarify that written informed consent for the publication of their personal or clinical details, along with any identifying images, has been obtained from all participants involved in the study. For minor patient, written informed consent has been obtained from his parents. This consent encompasses the use of these details and images in this study and any potential publication in scientific journals. Competing interests: The authors declare no competing interests. |
| Index. décimale : |
PER Périodiques |
| Résumé : |
Selenium, an essential micronutrient integrated into selenoproteins as selenocysteine, is fundamental to human health. These selenoproteins are vital for several physiological functions, including maintaining redox balance, safeguarding DNA, and metabolizing thyroid hormones, and are produced via complex pathways involving Sec-tRNA([Ser]Sec), the SECIS element, and specific proteins such as eEFSec. This study investigates a 4-year-old girl with global developmental delay and cerebellar atrophy, revealing compound heterozygous variants in the EEFSEC gene (p.V488Dfs*113 and p.R443P) through extensive genetic analysis and whole exome sequencing. Both functional prediction tools and structural analysis underscored the detrimental impact of the p.R443P variant. Notably, the patient's plasma exhibited elevated levels of oxidized fatty acid metabolites compared to those in healthy controls, suggesting an impairment in antioxidant mechanisms. This case link a human disease directly to variants in the EEFSEC gene, emphasizing its vital role in cerebellar atrophy and the broader implications for genetic disorders related to defects in selenoprotein synthesis. The results highlight the significance of genetic screening for EEFSEC variants in similar cases, potentially broadening the spectrum of known genetic subtypes associated with selenoprotein translation abnormalities. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-025-09632-6 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 |
in Journal of Neurodevelopmental Disorders > 17 (2025)
[article] Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy [texte imprimé] / Zhen LIU, Auteur ; Mei HE, Auteur ; Xuan LUO, Auteur ; Hu PAN, Auteur ; Juanli HU, Auteur ; Zhengqing WAN, Auteur ; Yin PENG, Auteur ; Yixiao LUO, Auteur ; Hua WANG, Auteur ; Xiao MAO, Auteur. Langues : Anglais ( eng) in Journal of Neurodevelopmental Disorders > 17 (2025)
| Mots-clés : |
Humans Female Child, Preschool Atrophy/genetics Cerebellum/pathology/diagnostic imaging Heterozygote Cerebellar Diseases/genetics EEFSEC gene Developmental delay Oxidized lipids Progressive cerebellar atrophy Selenium Selenoproteins conducted in accordance with the Declaration of Helsinki and approved by the Institutional Review Board (IRB) of Hunan Provincial Maternal and Child Health Care Hospital. Written informed consent was obtained from the legal guardians of all participants involved in the study. The consent covered all facets of participation and data utilization. To ensure the protection of our patient’s and control subjects' privacy, all personal identifiers were removed from the study data. Consent for publication: We hereby clarify that written informed consent for the publication of their personal or clinical details, along with any identifying images, has been obtained from all participants involved in the study. For minor patient, written informed consent has been obtained from his parents. This consent encompasses the use of these details and images in this study and any potential publication in scientific journals. Competing interests: The authors declare no competing interests. |
| Index. décimale : |
PER Périodiques |
| Résumé : |
Selenium, an essential micronutrient integrated into selenoproteins as selenocysteine, is fundamental to human health. These selenoproteins are vital for several physiological functions, including maintaining redox balance, safeguarding DNA, and metabolizing thyroid hormones, and are produced via complex pathways involving Sec-tRNA([Ser]Sec), the SECIS element, and specific proteins such as eEFSec. This study investigates a 4-year-old girl with global developmental delay and cerebellar atrophy, revealing compound heterozygous variants in the EEFSEC gene (p.V488Dfs*113 and p.R443P) through extensive genetic analysis and whole exome sequencing. Both functional prediction tools and structural analysis underscored the detrimental impact of the p.R443P variant. Notably, the patient's plasma exhibited elevated levels of oxidized fatty acid metabolites compared to those in healthy controls, suggesting an impairment in antioxidant mechanisms. This case link a human disease directly to variants in the EEFSEC gene, emphasizing its vital role in cerebellar atrophy and the broader implications for genetic disorders related to defects in selenoprotein synthesis. The results highlight the significance of genetic screening for EEFSEC variants in similar cases, potentially broadening the spectrum of known genetic subtypes associated with selenoprotein translation abnormalities. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-025-09632-6 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 |
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