Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene.

Abstract

We identified five disease-causing mutations in six factor XIII deficient patients from four unrelated families: two novel nonsense mutations (nucleotide 979C-->T corresponding to Arg326Stop; and nucleotide 2075G-->A corresponding to Trp691 Stop), one novel deletion of a single nucleotide (nucleotide 708G or 709G), one previously reported missense mutation (nucleotide 888C-->G corresponding to Ser295Arg), and a previously reported splice site mutation (nucleotide 319G-->T at the last position of exon 3). The phenotypic consequences of these mutations are discussed.

• Authors: Rashida Anwar, Louise Gallivan, Michael Richards, Kate Khair, Michael Wright, Adrian Minford
• Journal: Haematologica (Haematologica) Vol. 90 Issue 12 Pg. 1718-20 (Dec 2005) ISSN: 1592-8721 [Electronic] Italy
• PMID: 16330458 (Publication Type: Letter, Research Support, Non-U.S. Gov't)

Chemical References

• Codon
• Codon, Nonsense
• RNA Splice Sites
• Factor XIII

Topics

• Adolescent
• Adult
• Amino Acid Substitution
• Child
• Child, Preschool
• Codon (genetics)
• Codon, Nonsense
• Factor XIII (chemistry, genetics)
• Factor XIII Deficiency (genetics)
• Female
• Genotype
• Humans
• Male
• Mutation, Missense
• Phenotype
• Point Mutation
• Protein Structure, Tertiary
• RNA Splice Sites (genetics)
• Sequence Deletion