Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.
- Resource Type
- Academic Journal
- Authors
- Owaidah T; 1Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; 2Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.; Saleh M; 1Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Baz B; 2Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.; 3Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Abdulaziz B; 2Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.; Alzahrani H; 1Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Tarawah A; Medina Maternity and Children Hospital, Medina, Saudi Arabia.; Almusa A; 1Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; AlNounou R; 1Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; AbaAlkhail H; 1Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Al-Numair N; 2Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.; Altahan R; 1Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Abouelhoda M; 2Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.; 3Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Alamoudi T; 2Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.; Monies D; 2Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.; 3Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Jabaan A; 2Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.; Al Tassan N; 2Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.; 3Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
- Source
- Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: eCollection Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
- Subject
- Language
- English
Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder. Around 490 mutations in ITGA2B and ITGB3 genes were reported. We aimed to use targeted next-generation sequencing (NGS) to identify variants in patients with GT. We screened 72 individuals (including unaffected family members) using a panel of 393 genes (SHGP heme panel). Validation was done by Sanger sequencing and pathogenicity was predicted using multiple tools. In 83.5% of our cohort, 17 mutations were identified in ITGA2B and ITGB3 (including 6 that were not previously reported). In addition to variants in the two known genes, we found variants in ITGA2 , VWF and F8 . The SHGP heme panel can be used as a high-throughput molecular diagnostic assay to screen for mutations and variants in GT cases and carriers. Our findings expand the molecular landscape of GT and emphasize the robustness and usefulness of this panel.
Competing Interests: The authors declare no competing interests.