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Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.
  • +14
  • Jotte Rodrigues Bento,
  • Alice Krebsová,
  • Ilse Van Gucht,
  • Irene Valdivia Callejon,
  • An Van Berendoncks,
  • Pavel Votypka,
  • Ilse Luyckx,
  • Petra Peldova,
  • Steven Laga,
  • Marek Havelka,
  • Lut Van Laer,
  • Pavel Trunecka,
  • Nele Boeckx,
  • Aline Verstraeten,
  • Milan Macek,
  • Josephina Meester,
  • Bart Loeys
Jotte Rodrigues Bento
Universitair Ziekenhuis Antwerpen Centrum Medische Genetica

Corresponding Author:[email protected]

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Alice Krebsová
Institut klinicke a experimentalni mediciny
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Ilse Van Gucht
Universitair Ziekenhuis Antwerpen Centrum Medische Genetica
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Irene Valdivia Callejon
Universitair Ziekenhuis Antwerpen Centrum Medische Genetica
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An Van Berendoncks
Universitair Ziekenhuis Antwerpen
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Pavel Votypka
Fakultni nemocnice v Motole
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Ilse Luyckx
Universitair Ziekenhuis Antwerpen Centrum Medische Genetica
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Petra Peldova
Fakultni nemocnice v Motole
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Steven Laga
Universitair Ziekenhuis Antwerpen
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Marek Havelka
Fakultni nemocnice v Motole
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Lut Van Laer
Universitair Ziekenhuis Antwerpen Centrum Medische Genetica
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Pavel Trunecka
Institut klinicke a experimentalni mediciny
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Nele Boeckx
Universitair Ziekenhuis Antwerpen Centrum Medische Genetica
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Aline Verstraeten
Universitair Ziekenhuis Antwerpen Centrum Medische Genetica
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Milan Macek
Fakultni nemocnice v Motole
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Josephina Meester
Universitair Ziekenhuis Antwerpen Centrum Medische Genetica
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Bart Loeys
Universitair Ziekenhuis Antwerpen Centrum Medische Genetica
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Abstract

Pathogenic variants in JAG1 are known to cause Alagille syndrome (ALGS), a disorder that primarily affects the liver, lung, kidney and skeleton. Whereas cardiac symptoms are also frequently observed in ALGS, thoracic aortic aneurysms have only been reported sporadically in post-mortem autopsies. We here report two families with segregating JAG1 variants that present with isolated aneurysmal disease, as well as the first histological evaluation of aortic aneurysm tissue of a JAG1 variant carrier. Our observations shed more light on the pathomechanisms behind aneurysm formation in JAG1 variant carriers and underline the importance of cardiovascular imaging in the clinical follow-up of JAG1 variant carrying individuals.
22 Jan 2022Submitted to Human Mutation
25 Jan 2022Submission Checks Completed
25 Jan 2022Assigned to Editor
02 Feb 2022Reviewer(s) Assigned
04 Mar 2022Review(s) Completed, Editorial Evaluation Pending
16 Mar 2022Editorial Decision: Revise Minor
16 May 20221st Revision Received
08 Jun 2022Submission Checks Completed
08 Jun 2022Assigned to Editor
08 Jun 2022Review(s) Completed, Editorial Evaluation Pending
14 Jun 2022Editorial Decision: Revise Minor
24 Jun 20222nd Revision Received
28 Jun 2022Submission Checks Completed
28 Jun 2022Assigned to Editor
28 Jun 2022Review(s) Completed, Editorial Evaluation Pending
06 Jul 2022Editorial Decision: Accept