Protein C (PROC) gene mutations in two Indian families with purpura fulminans

Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations

“…The significant heterogeneity of mutations, some with relevant functional consequences but others with mild or even negligible effects, may account for the different clinical manifestations. Severe congenital PCD with almost undetectable PC:A is a rare condition usually associated with purpura fulminans (PF) and DIC during the neonatal period (Pai et al, 2010;Unal et al, 2014). Most cases with homozygous or compound heterozygous PCD showed detectable PC:A and milder clinical manifestations as situations in our study, i.e.…”

Novel protein C gene mutation in a compound heterozygote resulting in catastrophic thrombosis in early adulthood: diagnosis and long‐term treatment with subcutaneous protein C concentrate

“…Frameshift mutations in the PROC gene have been reported in homozygotes and heterozygotes with varying phenotypic severity (Takahashi et al , ; Pai et al , ). The patient's father (heterozygous for the novel frameshift mutation) developed unprovoked lower limb DVT at the age of 41 years, 4 years after the patient's thrombotic event.…”

Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review

“…The symptoms of them often present as severe purpura fulminans. [8,11,12,17,[20][21][22]27,28,31] These PROC mutations are located in exons 4 to 9 and intron 8. Exons 7 and 9 were most frequent involved, most of the mutations were point mutations, 5 cases showed a del mutation of the PROC gene, [8,9,15,17,21] one case showed a frameshift mutation of duplicated of c246_247.…”

“…We hope that our report will further assist other clinicians in diagnosing and treating this rare disease. [6] 38 yr Male c.580C > T Exon 7 c.970G > A Exon 9 26 yr Female c.820G > T Exon 9 c.889G > C Exon 9 3 [7] 27 yr Male G-to-C codon 297 Exon 9 51 yr Male C-to-T codon 210 Exon 9 4 [8] 7 mo NM T > C Promoter -1504 NM Birth NM c.340_346delinsATGCC NM Birth NM c.829G > A NM 5 [9] 9 yr Male c.577_579delAAG Exon 7 6 [10] 45 yr Male Heterozygous NM c.1152 C > G c.1207G > T 7 [11] 8 mo Male c.1198G > A 8 [12] 10 d NM 6246 G→A Exon 7 3 d NM Homozygous,3156, del C Exon 5 9 [13] 49 yr Male c.1015G > A Exon 9 10 [14] 29 yr Male Heterozygous T > C codon 106 11 [15] 40 yr Male c.577-579delAAG Exon 7 12 [16] 6 d Male Homozygous c.796 + 3A > T Intron 8 13 [17] 2 d Female Homozygous, deletion (GCGGGGCAGT between nucleo tides 7173-7182 Exon 8 14 [18] 19 yr Male Heterozygous c.949C > T Exon 9 15 [19] 26 yr Male 7054G→A Intron 7 16 [20] 13 yr Female 335 GAC > TAC, Exon 4 17 [21] 28 wks Male c.574_576delAAG Exon 7 18 [22] 18 d Female Homozygous c.346G > T NM 19 [23] 3 d Female Heterozygous c.1015G > A Exon 9 20 [24] 28 yr Male c246_247dupCT NM 21 [25] 28 yr Male g.7271G > A Exon 5 22 [26] 63 yr Male C8516T Exon 9 23 [27] 10 d Male Homozygous T903C NM 24 [28] 6 d Female Homozygous c.1048A > T codon 350 NM 25 [29] 20 yr Male Heterozygous 715_724delGGGGCAGTGC Exon 8 26 [30] 5 mo Male Homozygous (A-G)-12 NM 27 [31] 4…”

“…Articles that lacked genetic analysis and basic patient information were excluded, and 26 studies were included in our study. [6–31]…”