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Ninety novel F8 and F9 gene variants causing hemophilia A or B -- report from the PedNet cohort
  • +7
  • Nadine Gretenkort Andersson,
  • Veerle Labarque,
  • Anna Letelier,
  • Maria Elisa Mancuso,
  • Martina Bührlen,
  • Kathelijn Fischer,
  • Mutlu Kartal-Kaess,
  • Minna Koskenvuo,
  • Torben Mikkelsen,
  • Rolf Ljung
Nadine Gretenkort Andersson
Lund University
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Veerle Labarque
KU Leuven University Hospitals Leuven
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Anna Letelier
Skåne University Hospital Lund
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Maria Elisa Mancuso
La Fondazione IRCCS Ca' Granda Ospedale Maggiore di Milano Policlinico
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Martina Bührlen
Klinikum Bremen-Mitte gGmbH
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Kathelijn Fischer
University Medical Center Utrecht
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Mutlu Kartal-Kaess
Inselspital University Hospital Bern
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Minna Koskenvuo
Helsinki University Central Hospital
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Torben Mikkelsen
Aarhus University Hospital
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Rolf Ljung
Skåne University Hospital Lund
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Abstract

In hemophilia A and B, analysis of the F8 and F9 variants has become standard over recent decades, giving information on the severity of hemophilia, inhibitor formation and allowing counseling for the families. The PedNet Registry collects data on hemophilia in children and has more than 2000 children listed. Genetic reports are collected uniformly and re-evaluated following international guidelines. We report 90 novel variants in the F8 and F9 gene, respectively, causing hemophilia with detailed information on severity, factor level and inhibitor formation. This will lead to further guidance for genetic laboratories and the treating physician. These findings can be implemented in hemophilia variant databases. The study highlights the need to re-evaluate and update earlier genetic reports in hemophilia both locally but also in variant databases in the light of changed nomenclature, the use of in silico prediction and new sequencing techniques.

Peer review status:ACCEPTED

14 Apr 2020Submitted to Human Mutation
15 Apr 2020Submission Checks Completed
15 Apr 2020Assigned to Editor
20 Apr 2020Reviewer(s) Assigned
04 May 2020Review(s) Completed, Editorial Evaluation Pending
21 May 2020Editorial Decision: Revise Major
15 Jul 20201st Revision Received
16 Jul 2020Assigned to Editor
16 Jul 2020Submission Checks Completed
20 Jul 2020Reviewer(s) Assigned
30 Jul 2020Review(s) Completed, Editorial Evaluation Pending
04 Aug 2020Editorial Decision: Revise Minor
21 Aug 20202nd Revision Received
24 Aug 2020Assigned to Editor
24 Aug 2020Submission Checks Completed
25 Aug 2020Review(s) Completed, Editorial Evaluation Pending
07 Sep 2020Editorial Decision: Accept