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- Title
Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.
- Authors
Fahiminiya, Somayyeh; Oikonomopoulos, Spyros; Rivard, Georges‐Etienne; Gandhi, Mira; Scott, Patrick; Montpetit, Alexandre; Chen, Shu‐Huang; Park, KyungHee; Vezina, Catherine; Ragoussis, Jiannis; Carvalho, Claudia M. B.; Mitchell, Grant A.; Soucy, Jean‐Francois; Gauthier, Julie
- Abstract
Haemophilia A (HA) is an X-linked recessive coagulation disorder affecting 1 in 5000 male newborns. In both proband and his mother, the IS-PCR diagnostic test showed a 333 bp fragment corresponding to the int22h1/h3 chimera generated by Inv22-type1 or Del22-type1 (Figure S2). Inv22 analysis using IS-PCR revealed a novel pattern in the proband. References are given in Supplementary file. gl To date, IS-PCR is the first tier Dx test for severe HA, and further clinical testing usually ends after identifying Inv22 or Inv1.
- Subjects
GENE mapping; HEMOPHILIA; MEDICAL sciences; BLOOD coagulation factor VIII antibodies; GENETIC engineering
- Publication
Haemophilia, 2023, Vol 29, Issue 3, p921
- ISSN
1351-8216
- Publication type
Article
- DOI
10.1111/hae.14771