Pathogenic deep intronic PCSK1 variant causes proprotein convertase 1/3 deficiency in a family: short report
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...
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| Hauptverfasser: | , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
July 2025
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| In: |
Clinical genetics
Year: 2025, Jahrgang: 108, Heft: 1, Pages: 102-106 |
| ISSN: | 1399-0004 |
| DOI: | 10.1111/cge.14717 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1111/cge.14717 Verlag, kostenfrei, Volltext: http://onlinelibrary.wiley.com/doi/abs/10.1111/cge.14717 
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| Verfasserangaben: | Leah M. Huber, Aslı Subaşıoğlu, Dorota Garczarczyk-Asim, Taras Valovka, Thomas Müller, Rüdiger Adam, Andreas R. Janecke |
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| 520 | |a 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. | ||
| 650 | 4 | |a congenital malabsorptive diarrhea | |
| 650 | 4 | |a endocrinopathy | |
| 650 | 4 | |a obesity | |
| 650 | 4 | |a PCSK1 | |
| 650 | 4 | |a proprotein convertase 1/3 | |
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