| |  Online-Ressource |
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| Verfasst von: | Huber, Leah M. [VerfasserIn]  |
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| | Subaşıoğlu, Aslı [VerfasserIn] |
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| | Garczarczyk-Asim, Dorota [VerfasserIn] |
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| | Valovka, Taras [VerfasserIn] |
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| | Müller, Thomas [VerfasserIn] |
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| | Adam, Rüdiger [VerfasserIn] |
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| | Janecke, Andreas R. [VerfasserIn] |
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| Titel: | Pathogenic deep intronic PCSK1 variant causes proprotein convertase 1/3 deficiency in a family |
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| Titelzusatz: | short report |
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| Verf.angabe: | Leah M. Huber, Aslı Subaşıoğlu, Dorota Garczarczyk-Asim, Taras Valovka, Thomas Müller, Rüdiger Adam, Andreas R. Janecke |
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| E-Jahr: | 2025 |
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| Jahr: | July 2025 |
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| Umfang: | 5 S. |
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| Illustrationen: | Illustrationen, Diagramme |
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| Fussnoten: | Erstmals veröffentlicht: 1. Februar 2025 ; Gesehen am 14.07.2025 |
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| Titel Quelle: | Enthalten in: Clinical genetics |
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| Ort Quelle: | Oxford : Wiley-Blackwell, 1970 |
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| Jahr Quelle: | 2025 |
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| Band/Heft Quelle: | 108(2025), 1 vom: Juli, Seite 102-106 |
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| ISSN Quelle: | 1399-0004 |
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| Abstract: | Proprotein convertase 1/3 (PC1/3), encoded by PCSK1, is expressed in neuronal and endocrine cell types, where it activates a number of protein precursors that play roles in energy homeostasis. Biallelic PCSK1 loss-of-function mutations cause a polyendocrinopathy; a total of 34 patients were reported. An infant with congenital malabsorptive diarrhea of all carbohydrates underwent exome sequencing (ES), with particular consideration of PC1/3 deficiency, but no mutations were found. The onset of obesity in the second year of life increased suspicion of PC1/3 deficiency in the proband, as well as in his equally affected cousin. Transcript analysis revealed minor amounts of an aberrant PCSK1 transcript containing intron 9 sequence and encoding a premature stop codon (p.Pro400Valfs*35). A deep intronic PCSK1 variant, NG_021161.1(NM_000439.5):c.1196+2681T>A, was found to segregate in the proband's family with the disease. A minigene approach demonstrated that the identified deep-intronic variant underlies pseudo-exon inclusion of the intron 9 sequence in the transcript. The characteristic phenotype of PC1/3 deficiency might require extended genetic testing to make a timely diagnosis. |
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| DOI: | doi:10.1111/cge.14717 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
kostenfrei: Volltext: https://doi.org/10.1111/cge.14717 |
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| | kostenfrei: Volltext: http://onlinelibrary.wiley.com/doi/abs/10.1111/cge.14717 |
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| | DOI: https://doi.org/10.1111/cge.14717 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | congenital malabsorptive diarrhea |
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| | endocrinopathy |
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| | obesity |
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| | PCSK1 |
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| | proprotein convertase 1/3 |
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| K10plus-PPN: | 1930435711 |
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| Verknüpfungen: | → Zeitschrift |
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Pathogenic deep intronic PCSK1 variant causes proprotein convertase 1/3 deficiency in a family / Huber, Leah M. [VerfasserIn]; July 2025 (Online-Ressource)
