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Gippert, S.* ; Wagner, M. ; Brunet, T.* ; Berruti, R.* ; Brugger, M.* ; Schwaibold, E.M.C.* ; Haack, T.B.* ; Hoffmann, G.F.* ; Bettendorf, M.* ; Choukair, D.*

Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: A single-center study (within the framework of the TRANSLATE-NAMSE project).

Endocrine, DOI: 10.1007/s12020-023-03581-7 (2023)
Verlagsversion DOI PMC
Open Access Hybrid
Creative Commons Lizenzvertrag
Background: Endocrine disorders are heterogeneous and include a significant number of rare monogenic diseases. Methods: We performed exome sequencing (ES) in 106 children recruited from a single center within the TRANSLATE‑NAMSE project. They were categorized into subgroups: proportionate short stature (PSS), disproportionate short stature (DSS), hypopituitarism (H), differences in sexual development (DSD), syndromic diseases (SD) and others. Results: The overall diagnostic yield was 34.9% (n = 37/106), including 5 patients with variants in candidate genes, which have contributed to collaborations to identify gene-disease associations. The diagnostic yield varied significantly between subgroups: PSS: 16.6% (1/6); DSS: 18.8% (3/16); H: 17.1% (6/35); DSD: 37.5% (3/8); SD: 66.6% (22/33); others: 25% (2/8). Confirmed diagnoses included 75% ultrarare diseases. Three patients harbored more than one disease-causing variant, resulting in dual diagnoses. Conclusions: ES is an effective tool for genetic diagnosis in pediatric patients with complex endocrine diseases. An accurate phenotypic description, including comprehensive endocrine diagnostics, as well as the evaluation of variants in multidisciplinary case conferences involving geneticists, are necessary for personalized diagnostic care. Here, we illustrate the broad spectrum of genetic endocrinopathies that have led to the initiation of specific treatment, surveillance, and family counseling. Graphical Abstract: [Figure not available: see fulltext.].
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Chronic Pediatric Endocrine Diseases ; Exome Sequencing ; Multidisciplinary Case Conferences ; Rare Diseases ; Translate-namse; Joint Consensus Recommendation; Medical Genetics; American-college; Variants; Standards; Genomics
Sprache englisch
Veröffentlichungsjahr 2023
HGF-Berichtsjahr 2023
ISSN (print) / ISBN 1355-008X
e-ISSN 1559-0100
Zeitschrift Endocrine
Verlag Springer
Verlagsort Totowa, NJ
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503200-001
Förderungen Projekt DEAL
innovation fund of the Federal Joint Committee (G-BA)
DOI 10.1007/s12020-023-03581-7
WOS ID 001098591800002
Scopus ID 85176138642
PubMed ID 37940764
Erfassungsdatum 2023-12-14
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