Gómez E, Ledford M R, Pegelow C H, Reitsma P H, Bertina R M
Hemostasis and Thrombosis Research Centre, University Hospital, Leiden, The Netherlands.
Thromb Haemost. 1994 Jun;71(6):723-6.
Homozygous protein S (PS) deficiency is a very rare disorder that causes purpura fulminans in affected newborns. This report describes the molecular genetic abnormality of a severe PS deficient child who developed purpura fulminans shortly after birth. The mutation was identified as a deletion of one adenine in codon 43 of exon III of the PROS 1 gene. This mutation results in a frameshift and a novel stop codon at position 45. The proband was apparently homozygous and his mother heterozygous for this mutation. The proband's father was not available for study. The single base pair deletion predicts a truncated translation product, where Lys 43 and Tyr 44 have been replaced by Asn 43 and Thr 44. This putative protein (predicted mw of 5.696 daltons) contains only the gammacarboxyglutamic acid (Gla) domain and the aromatic stack.
纯合子蛋白S（PS）缺乏症是一种非常罕见的疾病，可导致患病新生儿发生暴发性紫癜。本报告描述了一名严重PS缺乏儿童的分子遗传异常情况，该儿童出生后不久即出现暴发性紫癜。该突变被鉴定为PROS 1基因外显子III第43密码子处一个腺嘌呤的缺失。此突变导致移码并在第45位产生一个新的终止密码子。先证者显然是该突变的纯合子，其母亲是杂合子。先证者的父亲无法进行研究。单碱基对缺失预测会产生一个截短的翻译产物，其中第43位赖氨酸和第44位酪氨酸被第43位天冬酰胺和第44位苏氨酸取代。这种推定的蛋白质（预测分子量为5.696道尔顿）仅包含γ-羧基谷氨酸（Gla）结构域和芳香族堆积。
