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Protein S deficiency type I: identification of point mutations in 9 of 10
families
S Mustafa, I Pabinger and C Mannhalter
Department of Clinical Chemistry and Laboratory Medicine, University Vienna
Medical School, Austria.
We identified potentially causative mutations in the active protein S gene
(PROS 1) by direct sequencing of PROS 1-specific polymerase chain reaction
(PRC) products of all 15 exons, including exon-intron boundaries in 10
families with hereditary protein S deficiency type I. Seven different
mutations were found in 9 of 10 families, including one frame shift
mutation, a previously published splice site mutation (both occurring in
two unrelated families), four missense mutations, and a stop codon at the
beginning of exon 12. In family studies, cosegregation of the mutation with
the disease could be demonstrated for five mutations; for two missense
mutations, this was not possible due to limited family data. All seven
mutations were the only abnormalities identified in the respective index
patients and were absent in 44 to 62 normal individuals. Therefore, they
most likely represent the causal gene defects. For five mutations, analysis
of ectopic RNA could be performed. Mutant transcripts were present in the
case of the frame shift and three of the missense mutations, while no
mutant RNA could be detected in the case of the stop codon.
Volume 86,
Issue 9,
pp. 3444-3451,
11/01/1995
Copyright © 1995 by The American Society of Hematology
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