Premium
Frameshift mutations with severe and moderate clinical phenotypes in Thai hemophilia A patients
Author(s) -
Akkarapatumwong Varaporn,
Intorasoot Sorasak,
Oranwiroon Sumalee,
Thanootarakul Prapaporn,
Pungamritt Parichat,
Veerakul Gavivann,
Mahasandana Chularatana,
Panyim Sakol,
Yenchitsomanus Pathai
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(200012)16:6<530::aid-humu16>3.0.co;2-3
Subject(s) - frameshift mutation , exon , mutation , phenotype , genetics , biology , gene , hum , clinical phenotype , stop codon , microbiology and biotechnology , art , performance art , art history
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. Hum Mutat 16:530–531, 2000. © 2000 Wiley‐Liss, Inc.