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Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 +G)
Author(s) -
DossenbachGlaninger Astrid,
Krugluger Walter,
Schrattbauer Karl,
Eder Sabine,
Hopmeier Pierre
Publication year - 2001
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2001.03017.x
Subject(s) - frameshift mutation , exon , compound heterozygosity , mutation , loss of heterozygosity , genetics , biology , microbiology and biotechnology , serine protease , stop codon , amino acid , gene , enzyme , protease , biochemistry , allele
We investigated a 42‐year‐old Caucasian woman with severe factor XI deficiency and her family members. Restriction enzyme analysis and DNA sequencing revealed compound heterozygosity in the patient for the known type III mutation, which is a Phe283Leu amino acid substitution in the fourth apple domain causing impaired dimerization and secretion, and for a novel frameshift mutation in exon 9 (codons 324/325 +G), leading to premature termination with lack of parts of the fourth apple domain and the downstream serine protease domain.