Protein C deficiency (a novel mutation

Su, Kankan; Fang, Weiwei; Zhang, Feng; Yang, Lizhu; Jin, Yanhui; Wang, Mingshan

doi:10.1097/mbc.0000000000000778

Cited by 6 publications

(5 citation statements)

References 19 publications

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“…The proband 2 had a heterozygous mutation p.Ala178Pro in exon 5 of PC gene, which also existed in his mother, both had decreased PC:A and PC:Ag. These findings were also consistent with several previous reports [10–12]. Therefore, we believe that it was the missense mutations of c.833T>C and c.532G>C that caused the decrease of PC:A and PC:Ag.…”

Section: Discussionsupporting

confidence: 93%

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Two heterozygous mutations associated with type I protein C deficiency in two Chinese independent families

Wang

Jin

et al. 2021

Blood Coagulation &Amp; Fibrinolysis

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To explore the pathogenesis of protein C (PC) deficiency in two independent families by mutations detection and bioinformatics analysis. The PC activity (PC:A) and PC antigen (PC:Ag) were detected by chromogenic substrate and ELISA, respectively. The PROC sequencing was performed to identify the mutational sites. The molecular pathogenesis of the mutations were studied by the conservation, bioinformatics and model analysis. The PC:A and PC:Ag of the proband 1 were observably reduced at 35 and 44%, respectively. Gene sequencing analysis revealed the p.Leu278Pro derived from a heterozygous c.833T>C point mutations in exon 9 of PROC gene. For proband 2, the PC:A and PC:Ag were decreased to 40 and 51%, respectively, caused p.Ala178Pro missense mutation by a heterozygous point mismatch of c.532G>C in exon 5 of PROC gene. Bioinformatics and model analysis indicated that it was the Leu278Pro and Ala178Pro that caused clinical PC deficiency (PCD). The heterozygous mutations Leu278Pro and Ala178Pro were observed in two independent families. The Leu278Pro mutation in the PROC gene has not been described elsewhere. The two mutations can both lead to the type I hereditary PCD, and probably be the major causes of PCD in the families.

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Section: Discussionsupporting

confidence: 93%

“…reports [10][11][12]. Therefore, we believe that it was the missense mutations of c.833T>C and c.532G>C that caused the decrease of PC:A and PC:Ag.…”

Section: Discussionmentioning

confidence: 99%

Two heterozygous mutations associated with type I protein C deficiency in two Chinese independent families

Wang

Jin

et al. 2021

Blood Coagulation &Amp; Fibrinolysis

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“…8 This variant has been linked to the development of systemic infections, NPF, DIC, and necrosis, which may result in the amputation of the affected limbs. 9,10 The PROC gene, encompassing 9 exons, is located on chromosome 2q14.3. Prenatal diagnosis through gene analysis may aid in the prevention of protein C deficiency.…”

Section: Introductionmentioning

confidence: 99%

“…The severe autosomal recessive type of Protein C deficiency is an infrequent occurrence, with an incidence rate of 1 in 4 million 8 . This variant has been linked to the development of systemic infections, NPF, DIC, and necrosis, which may result in the amputation of the affected limbs 9,10 …”

Section: Introductionmentioning

confidence: 99%

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The c.1243T>C mutation in the PROC gene is linked with inherited protein C deficiency and severe purpura fulminans

Nourbakhsh,

Bahadoram,

Rashidi‐Nezhad

et al. 2023

Clinical Case Reports

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Key Clinical MessagePurpura fulminans is a severe coagulation disorder that often leads to death in neonates. Mutations in the protein C (PROC) gene can cause protein C deficiency, leading to this disorder. This study aimed to investigate a family with a history of coagulopathies, particularly those related to protein C deficiency. The primary objective was to identify any genetic mutations in the PROC gene responsible for the coagulopathies. The study focused on a male neonate with purpura fulminans who ultimately died at 2 months of age. The patient had low protein C activity levels (6%). The entire PROC gene of the patient and his family was analyzed using next‐generation sequencing to identify any genetic mutations. Segregation analysis was conducted to determine if the mutation followed an autosomal dominant inheritance pattern. In silico analysis was also conducted to evaluate the pathogenicity of the identified mutation. Analysis revealed a novel homozygous c.1243T>G variant PROC gene. The mutation resulted in a Phe415Val substitution. The mutation was found in at least three generations of the family. Carrier family members had lower protein C activity levels than wild‐type homozygotes. Additionally, the mutation may account for the observed reduction in protein C enzyme activity.

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Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency

Xu,

Zhang,

et al. 2023

Ann Hematol

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Protein C deficiency (a novel mutation

Cited by 6 publications

References 19 publications

Two heterozygous mutations associated with type I protein C deficiency in two Chinese independent families

Two heterozygous mutations associated with type I protein C deficiency in two Chinese independent families

The c.1243T>C mutation in the PROC gene is linked with inherited protein C deficiency and severe purpura fulminans

Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency

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