Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene

Hemophilia A, an X-linked disease caused by deficiency of factor VIII, is characterized by variation in clinical severity and coagulation activity. This variation is thought to reflect heterogeneity of mutations in the factor VIII gene. Here we describe a CG-to-CA mutation within a potential cryptic...

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Bibliographic Details
Published inGenomics (San Diego, Calif.) Vol. 2; no. 1; pp. 32 - 36
Main Authors Youssoufian, Hagop, Kazazian, Haig H., Patel, Achyut, Aronis, Sophia, Tsiftis, George, Hoyer, Leon W., Antonarakis, Stylianos E.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 1988
Subjects
Adult
Cloning, Molecular
DNA Restriction Enzymes
Factor VIII - genetics
Genes
Hemophilia A - genetics
Humans
Introns
Male
Mutation
RNA Splicing
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Summary:Hemophilia A, an X-linked disease caused by deficiency of factor VIII, is characterized by variation in clinical severity and coagulation activity. This variation is thought to reflect heterogeneity of mutations in the factor VIII gene. Here we describe a CG-to-CA mutation within a potential cryptic donor splice site in intron 4 of the factor VIII gene from a patient with mild disease. This mutation makes the cryptic sequence resemble more closely the consensus sequence for donor splice sites. We infer that the mutation activates the cryptic donor splice site, which in turn causes a defect in RNA processing.
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ISSN:0888-7543
1089-8646
DOI:10.1016/0888-7543(88)90106-1