Novel F8 and F9 gene variants from the PedNet Hemophilia Registry classified according to ACMG/AMP guidelines
Andersson, Nadine G LU ; Labarque, Veerle ; Letelier, Anna LU ; Mancuso, Maria Elisa ; Bührlen, Martina ; Fischer, Kathelijn ; Kartal-Kaess, Mutlu ; Koskenvuo, Minna ; Mikkelsen, Torben and Ljung, Rolf LU
(2020)
In Human Mutation
41(12).
p.2058-2072
- Abstract
In hemophilia A and B, analysis of the F8 and F9 gene variants enables carrier- and prenatal diagnosis and prediction of risk for development of inhibitors. The PedNet Registry collects clinical, genetic and phenotypic data prospectively on >2000 children with hemophilia. The genetic reports of F8/F9 gene variants were classified uniformly to HGVS nomenclature and re-evaluated 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 ACMG... (More)
In hemophilia A and B, analysis of the F8 and F9 gene variants enables carrier- and prenatal diagnosis and prediction of risk for development of inhibitors. The PedNet Registry collects clinical, genetic and phenotypic data prospectively on >2000 children with hemophilia. The genetic reports of F8/F9 gene variants were classified uniformly to HGVS nomenclature and re-evaluated 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 ACMG (American College of Medical Genetics and Genomics)/AMP (Association for Molecular Pathology) guidelines together with information on the respective phenotype and inhibitor formation. 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 and new guidelines. This article is protected by copyright. All rights reserved.
(Less)
- author
- Andersson, Nadine G
LU
; Labarque, Veerle
; Letelier, Anna
LU
; Mancuso, Maria Elisa
; Bührlen, Martina
; Fischer, Kathelijn
; Kartal-Kaess, Mutlu
; Koskenvuo, Minna
; Mikkelsen, Torben
and Ljung, Rolf
LU
- author collaboration
- organization
- publishing date
- 2020-12
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Human Mutation
- volume
- 41
- issue
- 12
- pages
- 15 pages
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- pmid:32935414
- scopus:85096946914
- ISSN
- 1059-7794
- DOI
- 10.1002/humu.24117
- language
- English
- LU publication?
- yes
- id
- 24067e34-abd7-40d6-91c9-b98d3af4e1b2
- date added to LUP
- 2020-09-18 11:00:58
- date last changed
- 2024-05-01 18:12:28
@article{24067e34-abd7-40d6-91c9-b98d3af4e1b2,
abstract = {{<p>In hemophilia A and B, analysis of the F8 and F9 gene variants enables carrier- and prenatal diagnosis and prediction of risk for development of inhibitors. The PedNet Registry collects clinical, genetic and phenotypic data prospectively on >2000 children with hemophilia. The genetic reports of F8/F9 gene variants were classified uniformly to HGVS nomenclature and re-evaluated 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 ACMG (American College of Medical Genetics and Genomics)/AMP (Association for Molecular Pathology) guidelines together with information on the respective phenotype and inhibitor formation. 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 and new guidelines. This article is protected by copyright. All rights reserved.</p>}},
author = {{Andersson, Nadine G and Labarque, Veerle and Letelier, Anna and Mancuso, Maria Elisa and Bührlen, Martina and Fischer, Kathelijn and Kartal-Kaess, Mutlu and Koskenvuo, Minna and Mikkelsen, Torben and Ljung, Rolf}},
issn = {{1059-7794}},
language = {{eng}},
number = {{12}},
pages = {{2058--2072}},
publisher = {{John Wiley & Sons Inc.}},
series = {{Human Mutation}},
title = {{Novel F8 and F9 gene variants from the PedNet Hemophilia Registry classified according to ACMG/AMP guidelines}},
url = {{http://dx.doi.org/10.1002/humu.24117}},
doi = {{10.1002/humu.24117}},
volume = {{41}},
year = {{2020}},
}