Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene.
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.
Anwar
Rashida
R
Gallivan
Louise
L
Richards
Michael
M
Khair
Kate
K
Wright
Michael
M
Minford
Adrian
A
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D005176:Factor XIII / Q000737:chemistry / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D022821:RNA Splice Sites / Q000235:genetics*; D017384:Sequence Deletion
D003062:Codon; D018389:Codon, Nonsense; D022821:RNA Splice Sites; D005176:Factor XIII