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Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene

Establishing a national screening program for hemophilia patients is highly encouraged by the World Health Organization and the World Federation of Hemophilia. Hence, this study aimed to analyze the variant spectrum of F8 and F9 genes in Arab hemophilia patients. Molecular genetic and sequencing stu...

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Autores principales: Owaidah, Tarek, Bakr, Salwa, Al-Numair, Nouf, AbaAlkhail, Hala, Alzahrani, Hazzaa, Saleh, Mahasen, Khogeer, Haitham, Tarawah, Ahmed, Akkad, Hadeel, Al-Allaf, Faisal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10395182/
https://www.ncbi.nlm.nih.gov/pubmed/37525882
http://dx.doi.org/10.1177/10760296231182410
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author Owaidah, Tarek
Bakr, Salwa
Al-Numair, Nouf
AbaAlkhail, Hala
Alzahrani, Hazzaa
Saleh, Mahasen
Khogeer, Haitham
Tarawah, Ahmed
Akkad, Hadeel
Al-Allaf, Faisal
author_facet Owaidah, Tarek
Bakr, Salwa
Al-Numair, Nouf
AbaAlkhail, Hala
Alzahrani, Hazzaa
Saleh, Mahasen
Khogeer, Haitham
Tarawah, Ahmed
Akkad, Hadeel
Al-Allaf, Faisal
author_sort Owaidah, Tarek
collection PubMed
description Establishing a national screening program for hemophilia patients is highly encouraged by the World Health Organization and the World Federation of Hemophilia. Hence, this study aimed to analyze the variant spectrum of F8 and F9 genes in Arab hemophilia patients. Molecular genetic and sequencing studies were performed on a cohort of 135 Saudi hemophilia patients. Out of all screened hemophilia patients (97 hemophilia A and 39 hemophilia B), 15 (11.1%) were positive for inversion 22 and 4 (3%) for inversion 1. Out of a total of 32 (23.7%) substitution/deletion mutations, 2 novel variants were identified: a novel splice acceptor site missense mutation (c.5816-2A > G) causing a pathogenic variant of the F8 gene and another splicing site point mutation in intron/exon 23 (g.164496G > A). The frequent F8 variants were (c.409A > C, p.T137P) in exon 4, (c.760A > G) in exon 6, and (c.1835G > C, p.R612P) in exon 12, while the frequent F9 variants were (c.580A > G) in exon 6 and (c.880C > T) in exon 8. These study data will enrich the spectrum of the genetic databases in the Arab population that could be applied in the future for national genetic counseling.
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spelling pubmed-103951822023-08-03 Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene Owaidah, Tarek Bakr, Salwa Al-Numair, Nouf AbaAlkhail, Hala Alzahrani, Hazzaa Saleh, Mahasen Khogeer, Haitham Tarawah, Ahmed Akkad, Hadeel Al-Allaf, Faisal Clin Appl Thromb Hemost Original Manuscript Establishing a national screening program for hemophilia patients is highly encouraged by the World Health Organization and the World Federation of Hemophilia. Hence, this study aimed to analyze the variant spectrum of F8 and F9 genes in Arab hemophilia patients. Molecular genetic and sequencing studies were performed on a cohort of 135 Saudi hemophilia patients. Out of all screened hemophilia patients (97 hemophilia A and 39 hemophilia B), 15 (11.1%) were positive for inversion 22 and 4 (3%) for inversion 1. Out of a total of 32 (23.7%) substitution/deletion mutations, 2 novel variants were identified: a novel splice acceptor site missense mutation (c.5816-2A > G) causing a pathogenic variant of the F8 gene and another splicing site point mutation in intron/exon 23 (g.164496G > A). The frequent F8 variants were (c.409A > C, p.T137P) in exon 4, (c.760A > G) in exon 6, and (c.1835G > C, p.R612P) in exon 12, while the frequent F9 variants were (c.580A > G) in exon 6 and (c.880C > T) in exon 8. These study data will enrich the spectrum of the genetic databases in the Arab population that could be applied in the future for national genetic counseling. SAGE Publications 2023-08-01 /pmc/articles/PMC10395182/ /pubmed/37525882 http://dx.doi.org/10.1177/10760296231182410 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Original Manuscript
Owaidah, Tarek
Bakr, Salwa
Al-Numair, Nouf
AbaAlkhail, Hala
Alzahrani, Hazzaa
Saleh, Mahasen
Khogeer, Haitham
Tarawah, Ahmed
Akkad, Hadeel
Al-Allaf, Faisal
Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene
title Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene
title_full Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene
title_fullStr Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene
title_full_unstemmed Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene
title_short Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene
title_sort genotype hemophilia screening program identified 2 novel variants including a novel variant (c.5816-2a > g) causing a pathogenic variant of the factor 8 gene
topic Original Manuscript
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10395182/
https://www.ncbi.nlm.nih.gov/pubmed/37525882
http://dx.doi.org/10.1177/10760296231182410
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