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Six point mutations that cause factor XI deficiency
RE Pugh, JH McVey, EG Tuddenham and JF Hancock
Department of Academic Haematology, Royal Free Hospital Medical School,
London, UK.
We have identified six novel types of mutation that cause factor XI
deficiency, an inherited bleeding disorder. Two are point mutations that
interfere with the normal splicing of exons in the mRNA and four are point
mutations that result in amino acid substitutions. One of these amino acid
substitutions (Asp 16-->His) is near the amino terminal end of the
protein. The other three amino acid substitutions (Leu 302-->Pro, Thr
304-->Ile, and Glu 323-->Lys) are in the fourth apple domain, a
region that mediates dimerization of identical subunits of factor XI. All
four amino acid substitutions cause a reduction in the amount of factor XI
secreted from cells grown in vitro.
Volume 85,
Issue 6,
pp. 1509-1516,
03/15/1995
Copyright © 1995 by The American Society of Hematology
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