Two factor XI mutations in a Chinese family with factor XI deficiency

Abstract

We describe a Chinese family with factor XI deficiency, the first reported to date. The proband had factor XI activity of 1% and was heterozygous for two nonsense mutations, an exon-8 C713 → T mutation resulting in Gln263 → Term, and an exon-10 C979 → A mutation resulting in Tyr351 → Term. Two daughters were heterozygous for the Gln263 → Term mutation and two for the Try351 → Term mutation. All showed a reduction of factor XI activity to about 50%. The Gln263 → Term mutation has been described in two Japanese families, and it remains to be determined whether a common founder exists between the three kindreds. The Try351 → Term mutation is novel. © 2003 Wiley-Liss, Inc.