Phenotypic and genotypic characterization of four factor VII deficiency patients from central China

Liu, Hui; Wang, Huafang; Cheng, Zhengwang; Wang, Qingyun; Hu, Bei; Zeng, Wenbin; Wu, Yingying; Guo, Tao; Tang, Liang; Hu, Yu Lin

doi:10.1097/mbc.0000000000000279

Cited by 5 publications

(3 citation statements)

References 23 publications

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“…tients with one spontaneous bleeding (Grade II according to Peyvandi) were classified as Mild in ▶ Table 2 B, although there was an overlapping distribution when scores were related to FVII:C levels (▶ Figure 1 A and B). The genotype-phenotype relationship in FVII deficiency has been analysed in several smaller cohorts (27)(28)(29)(30)(31)(32)(33)(34). The results of the present study confirm and extend, in a homogeneously studied and genotyped cohort, the clinical and molecular variability of the disease and the type of symptoms described by other authors.…”

Section: Quintavalle Et Al F7 Gene Variants In Fvii Deficiencysupporting

confidence: 87%

F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency

Quintavalle¹,

Riccardi²,

Rivolta³

et al. 2017

Thromb Haemost

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Congenital factor VII (FVII) deficiency is a rare bleeding disorder caused by mutations in F7 gene with autosomal recessive inheritance. A clinical heterogeneity with poor correlation with FVII:C levels has been described. It was the objective of this study to identify genetic defects and to evaluate their relationships with phenotype in a large cohort of patients with FVII:C<50 %. One hundred twenty-three probands were genotyped for F7 mutations and three polymorphic variants and classified according to recently published clinical scores. Forty out of 123 patients (33 %) were symptomatic (43 bleedings). A severe bleeding tendency was observed only in patients with FVII:C<0.10 %. Epistaxis (11 %) and menorrhagia (32 % of females in fertile age) were the most frequent bleedings. Molecular analysis detected 48 mutations, 20 not reported in the F7 international databases. Most mutations (62 %) were missense, large deletions were 6.2 %. Compound heterozygotes/homozygotes for mutations presented lower FVII:C levels compared to the other classes (Chi=43.709, p<0,001). The polymorphisms distribution was significantly different among the three F7 genotypic groups (Chi=72.289, p<0,001). The presence of truncating mutations was associated with lowest FVII:C levels (Chi=21.351, p=0.002). This study confirms the clinical and molecular variability of the disease and the type of symptoms. It shows a good correlation between the type of F7 mutation and/or polymorphisms and FVII:C levels, without a direct link between FVII:C and bleeding tendency. The results suggest that large deletions are underestimated and that they represent a common mechanism of F7 gene inactivation which should always be investigated in the diagnostic testing for FVII deficiency.

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Section: Quintavalle Et Al F7 Gene Variants In Fvii Deficiencysupporting

confidence: 87%

F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency

Quintavalle¹,

Riccardi²,

Rivolta³

et al. 2017

Thromb Haemost

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“…CNKI, WanFang, and PubMed databases were searched for relevant articles published nearly five years using the keywords of "compound heterozygous mutation; FVII deficiency" in Chinese and English, respectively. There were 3 Chinese articles [8][9][10] and 5 English articles [11][12][13][14][15] concerning hereditary FVII deficiency on case report. Complete clinical data from 11 cases of hereditary FVII deficiency were analyzed, including 3 males and 8 females.…”

Section: Literature Reviewmentioning

confidence: 99%

A novel compound heterozygous mutation of F7 gene identified in an infant with hereditary factor VII deficiency and literature review

Wang¹,

Ai²,

Liu³

et al. 2020

Preprint

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Hereditary factor VII (FVII) deficiency is a rare autosomal recessive disorder, characterized by decreasing the coagulation activity of FVII in plasma and heterogeneous with bleeding in different degrees. Hereditary factor VII deficiency is usually caused by missense mutations in the F7 gene, which may affect the structure and function of FVII. Here we present a case of hereditary factor VII deficiency in an infant who was found to have a prolonged prothrombin time(PT)and 2.0% of FVII activity. Molecular studies revealed a novel compound heterozygous mutation of the F7 gene, which confirmed the diagnosis of hereditary factor VII deficiency.

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“…A weak association between F7 genotype, FVII:C and clinical phenotype was reported. In China, case reports or case series on patients with FVII deficiency only came from a limited number of provinces 11–14 . China started a national haemophilia registry in the 1990s.…”

Section: Introductionmentioning

confidence: 99%

Factor VII deficiency in China: Phenotype, genotype and current status of management

Liu

Zhang

et al. 2022

Br J Haematol

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Inherited factor VII (FVII) deficiency, transmitted with an autosomal recessive pattern, is a rare congenital coagulation disorder with an estimated prevalence of one in 500 000. [1][2][3] Numerous variants and some polymorphisms in the F7 gene, located on chromosome 13q34, are associated with varying degrees of FVII activity (FVII:C). 1 FVII, interacting with tissue factor, plays an important role in the coagulation cascade. Patients with FVII deficiency display a wide range of clinical phenotypes, from the absence of bleeding symptoms to life-or limb-threatening central nervous system (CNS), gastrointestinal (GI) haemorrhages or haemarthrosis.The analyses of patients from several international registries 3-10 have provided data on phenotype, genotype and management of FVII deficiency. A weak association between

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Phenotypic and genotypic characterization of four factor VII deficiency patients from central China

Cited by 5 publications

References 23 publications

F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency

F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency

A novel compound heterozygous mutation of F7 gene identified in an infant with hereditary factor VII deficiency and literature review

Factor VII deficiency in China: Phenotype, genotype and current status of management

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