Publication: Frameshift mutations with severe and moderate clinical phenotypes in Thai hemophilia A patients
Issued Date
2000-01-01
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ISSN
10981004
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2-s2.0-0034546828
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Mahidol University
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SCOPUS
Bibliographic Citation
Human mutation. Vol.16, No.6 (2000), 530-531
Suggested Citation
Varaporn Akkarapatumwong, Sorasak Intorasoot, Sumalee Oranwiroon, Prapaporn Thano-otarakul, Parichat Pung-amritt, Gavivann Veerakul, Chularatana Mahasandana, Sakol Panyim, Pa Thai Yenchitsomanus Frameshift mutations with severe and moderate clinical phenotypes in Thai hemophilia A patients. Human mutation. Vol.16, No.6 (2000), 530-531. doi:10.1002/1098-1004(200012)16:6<530::AID-HUMU16>3.0.CO;2-3 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/25890
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Title
Frameshift mutations with severe and moderate clinical phenotypes in Thai hemophilia A patients
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Abstract
Six frameshift mutations in exon 14 of the factor VIII gene were identified in Thai hemophilia A patients. Although all these mutations created premature stop codons and expected to cause severe disease, the molecular defects and clinical severity were in discrepancy in some patients. Four mutations (delT3490, delACAC3618-21, delGA4429-30, and delA4658) were found in the patients with the severe clinical phenotype while two (delA3629-37 and insA4372-9) were observed in the patients who had moderate severity, with FVIII:C of 4.2 and 2.8%. The frameshift mutations in these two patients were due to deletion and insertion of an 'A' nucleotide in the stretches of 9As and 8As in codons 1191-4 and 1439-41, respectively. This indicates that deletion or insertion in the stretches of poly A nucleotides in exon 14 of the factor VIII gene is a likely cause of the moderate clinical severity in some cases of Thai hemophilia A patients. Copyright 2000 Wiley-Liss, Inc.