Andersson, Nadine G; Labarque, Veerle; Letelier, Anna; Mancuso, Maria Elisa; Bührlen, Martina; Fischer, Kathelijn; Kartal-Kaess, Mutlu; Koskenvuo, Minna; Mikkelsen, Torben; Ljung, Rolf (2020). Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines. Human mutation, 41(12), pp. 2058-2072. Wiley 10.1002/humu.24117
|
Text
humu.24117.pdf - Published Version Available under License Creative Commons: Attribution-Noncommercial-No Derivative Works (CC-BY-NC-ND). Download (739kB) | Preview |
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.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Paediatric Haematology/Oncology |
UniBE Contributor: |
Kartal-Kaess, Mutlu |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1098-1004 |
Publisher: |
Wiley |
Language: |
English |
Submitter: |
Anette van Dorland |
Date Deposited: |
26 Jan 2021 15:21 |
Last Modified: |
05 Dec 2022 15:44 |
Publisher DOI: |
10.1002/humu.24117 |
PubMed ID: |
32935414 |
Uncontrolled Keywords: |
F8 gene F9 gene Factor IX Factor VIII hemophilia variant database |
BORIS DOI: |
10.48350/150768 |
URI: |
https://boris.unibe.ch/id/eprint/150768 |
Actions (login required)
 |
Edit item |