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Two factor XI mutations in a Chinese family with factor XI deficiency
Author(s) -
Au W.Y.,
Cheung J.W.,
Lam C.C.K.,
Kwong Y.L.
Publication year - 2003
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.10396
Subject(s) - nonsense mutation , mutation , proband , genetics , factor xi , exon , term (time) , chinese family , nonsense , biology , medicine , missense mutation , gene , physics , quantum mechanics , coagulation
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. Am. J. Hematol. 74:136–138, 2003. © 2003 Wiley‐Liss Inc.