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
| Autor: | Maki Sumioka, Haruhiko Osawa, Kiriko Tokuda, Shiro Bando, Kaichi Kida, Yoshiko Oto, Mitsuharu Murase, Namiko Takeda, Hideichi Makino, Toshiyuki Niiya |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Male
Heterozygote Mutation Missense Hematology Gene mutation Biology Compound heterozygosity Factor XIII Factor XIII Deficiency Molecular biology Stop codon Pedigree Frameshift mutation Exon Mutation (genetic algorithm) DNA Transposable Elements medicine Humans Missense mutation Female Frameshift Mutation medicine.drug |
| Zdroj: | British Journal of Haematology. 107:772-775 |
| ISSN: | 0007-1048 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text