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A complete deficiency of coagulation factor XIII A‐subunit due to a novel compound heterozygote of Ser 413 Leu missense and an nt 389 (ins G) frameshift mutation
Author(s) -
Niiya Toshiyuki,
Osawa Haruhiko,
Bando Shiro,
Oto Yoshiko,
Tokuda Kiriko,
Takeda Namiko,
Sumioka Maki,
Murase Mitsuharu,
Kida Kaichi,
Makino Hideichi
Publication year - 1999
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.1365-2141.1999.01764.x
Subject(s) - missense mutation , frameshift mutation , compound heterozygosity , heterozygote advantage , mutation , genetics , protein subunit , factor ix , microbiology and biotechnology , medicine , biology , gene , allele
Coagulation factor XIII consists of two A‐ and two B‐subunits, and either gene mutation can cause a complete deficiency. In a newborn patient with persistent bleeding from the umbilical cord stump, the plasma A‐subunit protein was not detectable. Direct PCR sequencing revealed an nt 389 (ins G) frameshift mutation in exon 4 resulting in a new stop codon and a Ser 413 Leu missense mutation in exon 10 in either allele. His mother and father were heterozygous for the nt 389 (ins G) and the Ser 413 Leu, respectively, with about 50% reduction of the plasma A‐subunit proteins. In all family members examined only those with either mutation showed the reduced subunit A protein levels. Thus, this complete deficiency of factor XIII was due to a novel compound heterozygous mutation in the A‐subunit gene.