@article{b2f3f18e17ee4c92871cc41decdc8dde,
title = "Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines",
abstract = "In hemophilia A and B, analysis of the F8 and F9 gene variants enables carrier and prenatal diagnosis and prediction of risk for the development of inhibitors. The PedNet Registry collects clinical, genetic, and phenotypic data prospectively on more than 2000 children with hemophilia. The genetic reports of F8/F9 gene variants were classified uniformly to Human Genome Variation Society nomenclature and reevaluated using international population- and disease-specific databases, literature survey and, where applicable, computational predictive programs. We report 88 novel variants in the F8 and F9 genes, 80 fulfilling criteria for Class 5 (pathogenic), six for Class 4 (likely pathogenic) and two fulfilling criteria for Class 3 (variant of unknown significance) of the American College of Medical Genetics and Genomics/Association for Molecular Pathologyguidelines together with information on the respective phenotype and inhibitor formation. The study highlights the need to reevaluate and update earlier genetic reports in hemophilia both locally but also in variant databases in light of changed nomenclature and new guidelines.",
keywords = "F8 gene, F9 gene, Factor IX, Factor VIII, hemophilia, variant database",
author = "Andersson, {Nadine G.} and Veerle Labarque and Anna Letelier and Mancuso, {Maria Elisa} and Martina B{\"u}hrlen and Kathelijn Fischer and Mutlu Kartal-Kaess and Minna Koskenvuo and Torben Mikkelsen and Rolf Ljung",
note = "Funding Information: This study is supported by the PedNet Haemophilia Research Foundation and by grants from The Swedish Research Council (2015-02957). Unrestricted sponsorship for the PedNet Haemophilia Foundation is currently received from Bayer AG, Novo Nordisk Healthcare AG, Pfizer SRL, CSL Behring GmbH, Swedish Orphan Biovitrium AB, Takeda, Hoffmann La-Roche. The authors greatly appreciate the support of the PedNet Foundation staff members, especially Marloes de Kovel and Ella van Hardeveld. Funding Information: This study is supported by the PedNet Haemophilia Research Foundation and by grants from The Swedish Research Council (2015‐02957). Unrestricted sponsorship for the PedNet Haemophilia Foundation is currently received from Bayer AG, Novo Nordisk Healthcare AG, Pfizer SRL, CSL Behring GmbH, Swedish Orphan Biovitrium AB, Takeda, Hoffmann La‐Roche. Publisher Copyright: {\textcopyright} 2020 The Authors. Human Mutation published by Wiley Periodicals LLC",
year = "2020",
month = dec,
day = "1",
doi = "10.1002/humu.24117",
language = "English",
volume = "41",
pages = "2058--2072",
journal = "Human mutation",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "12",
}