Homozygous protein C deficiency with a double variant His 202 to Tyr and Ala 346 to Thr.
We present the protein C gene analysis of a patient with homozygous protein C deficiency. The patient was referred with purpura fulminans 3 h after birth. Skin necroses had developed on the scalp, abdomen and upper extremities when he was two days old. His protein C activity was 0.03-0.05 IU/ml and the levels in his consanguineous parents were 0.32 and 0.40 IU/ml. He was treated initially with fresh frozen plasma, and later with daily oral anticoagulants, for two episodes of skin necrosis. He had three more episodes of skin necroses that were treated with intravenous protein C concentrate. He is now two years old and under treatment with daily coumarin 0.1-0.2 mg/kg per day to keep the International Normalized Ratio between 2.0-4.5. DNA analysis showed that he is homozygous for a double variant bearing His 202 to Tyr and Ala 346 to Thr mutations. His parents were each heterozygous for the double variant and were consanguineous. This mutation has been reported previously in an Austrian patient but this is the first homozygous case for this double variant.
Kemahli
S
S
Department of Paediatric Haematology, Faculty of Medicine, Ankara University, Turkey.
Alhenc-Gelas
M
M
Gandrille
S
S
Aiach
M
M
Akar
N
N
Cin
S
S
D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D003241:Consanguinity; D014644:Genetic Variation / Q000235:genetics*; D006639:Histidine / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D013912:Threonine / Q000235:genetics; D014443:Tyrosine / Q000235:genetics
D011486:Protein C; D013912:Threonine; D014443:Tyrosine; D006639:Histidine; D000409:Alanine