AI Article Synopsis
- Hemophilia A (HA) is a genetic disorder linked to the X chromosome, primarily caused by a deficiency in factor VIII (F8), with specific mutations in intron 22 and exon 14 being common carriers of severe HA cases.
- A study of 60 Egyptian HA patients identified several mutations: three rearrangements in intron 22, along with three mutations in exon 14, including two frameshift mutations and one nonsense mutation, all associated with severe symptoms.
- The findings suggest that intron 22 rearrangements and mutations in exon 14 are significant contributors to severe Hemophilia A in Egyptian patients, highlighting areas for further research.
Article Abstract
Background: Hemophilia A (HA) is an inherited X-linked recessive coagulation disorder caused by factor VIII (F8) deficiency. F8 rearrangements involving intron 22 (int22) and intron 1 (int1) account for almost half of severe HA phenotype also a hotspot exon 14 provides numerous mutational patterns. This study aims to identify F8 gene mutations among Egyptian HA patients.
Methods: DNA samples from 60 HA patients were screened for int22 and int1 rearrangements using simplified inverse shifting PCR (IS-PCR) followed by exon 14 sequencing. Also, four uncharacterized patients were studied by targeted exome sequencing.
Results: In 33.3% of the studied patients, we identified three int22 rearrangements, three exon 14 mutations (two frameshift; one novel (NM_000132.3:c.2734_2735delAA, p.(N912Ffs*6)), a second reported mutation (NM_000132.3:c.3091_3094delAGAA, p.(K1031Lfs*9)), and one nonsense mutation (NM_000132.3:c.2440C>T, p.(R814*)). All identified mutations were detected in patients with severe HA phenotype. Targeted exome sequencing could not detect any known pathogenic variants.
Conclusion: Intron 22 rearrangement and exon 14 mutations correlate with most severe hemophilia A Egyptian patients.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077131 | PMC |
| http://dx.doi.org/10.1002/mgg3.1575 | DOI Listing |
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