Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees
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Le résumé fourni par la source
BACKGROUND: U leads to mitochondrial disease. While twenty-three variants of GTPBP3 have been reported worldwide, the genetic landscape in China remains uncertain. METHODS: By using whole-exome sequencing, the candidate individuals carrying GTPBP3 variants were screened and identified. Pathogenicity analysis of variants was biochemically verified by patients-derived immortalized lymphocytes and cell models. RESULTS: Through whole-exome sequencing, thirteen variants associated with GTPBP3 were identified in nine Chinese pedigrees, with eight of these variants being newly reported. Affected individuals displayed classic neurologic phenotypes and heart complications including developmental delay, seizures, hypotonia, exercise intolerance, and hypertrophic cardiomyopathy. Additionally, they displayed new symptoms such as eye problems like strabismus and heart issues related to valve function. Studies conducted on patient-derived cells provided evidence of reduced levels of GTPBP3 and impairment in mitochondrial energetic biogenesis. Re-expressing GTPBP3 variants in knockout cell lines further defined the pathogenicity of the novel variants. Analysis of the genetic spectrum in the Chinese population highlighted a concentration in exons 4 and 6, with c.689A > C being the prominent hotspot. CONCLUSION: Our findings emphasize the extensive clinical and genetic implications of GTPBP3-related mitochondrial disorders, particularly within the Chinese population, but further investigations are needed to explore the phenotype-genotype correlation.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees
- Date Crossref
- 24/12/2024
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Zhejiang Provincial People's Hospital pays non établi dans la noticeÉtablissement de santé
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Obstetrics and Gynecology Hospital of Fudan University Genetics Center of Obstetrics and Gynecology pays non établi dans la noticeÉtablissement de santé
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Hangzhou Medical College Laboratory Medicine Center pays non établi dans la noticeUniversité ou école supérieure
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Wenzhou Medical University pays non établi dans la noticeUniversité ou école supérieure
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Central South University Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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Xiangya Hospital Central South University pays non établi dans la noticeÉtablissement de santé
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Peking University Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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Peking University First Hospital pays non établi dans la noticeÉtablissement de santé
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School of Laboratory Medicine and Life Sciences Key Laboratory of Laboratory Medicine pays non établi dans la noticeUniversité ou école supérieure
Zhejiang Provincial People's Hospital, Genetics Center of Obstetrics and Gynecology — Obstetrics and Gynecology Hospital of Fudan University et Laboratory Medicine Center — Hangzhou Medical College, avec 6 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.