Espinosa-Parrilla Y, Morell M, Souto JC, Tirado I, Fontcuberta J, Estivill X,
Protein S gene analysis reveals the presence of a cosegregating mutation in most
pedigrees with type I but not type III PS deficiency.
Hum Mutat. 1999;14(1):30-9. doi:
DNA sequence analysis of the protein S gene (PROS1) in 22 Spanish probands with
type I or III PS deficiency, has allowed the identification of 10 different
mutations and 2 new sequence variants in 15 probands. Nine of the mutations, 8 of
which are novel, cosegregate with type I or quantitative PS deficiency in 12 of
the 13 pedigrees analyzed. One of these mutations (Q238X) also cosegregates with
both type I and III PS-deficient phenotypes coexisting in a type I/III pedigree.
Another mutation identified in a pedigree with these two PS phenotypes is the
missense mutation R520G, present in the homozygous form in the type I propositus
and in the heterozygous form in his type III relatives. By contrast, no
cosegregating PROS1 mutation has been found in any of the six families with only
type III phenotypes. Three of these families, as well as the two families with
type I and I/III phenotypes where no other PROS1 mutation has been identified,
segregate the P allele of the S460P variant, although this allele does not always
cosegregate with the deficient phenotype. From these results we conclude that
while mutations in PROS1 are the main cause of type I PS deficiency, the
molecular basis of the type III phenotype is probably more complex, with many
cases not being explained by a PROS1 mutation.
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