Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China

作者全名："Wang, Anzi; Su, Dongyun; Chen, Yanrong; Fu, Yuhan; Tan, Xiaoyan; Luo, Jingyuan; Wang, Jie; Li, Yue; Chen, Shu"

作者地址："[Wang, Anzi; Fu, Yuhan; Tan, Xiaoyan; Luo, Jingyuan; Wang, Jie; Chen, Shu] Chongqing Med Univ, Affiliated Hosp 2, Dept Hematol, 74 Linjiang Rd, Chongqing 40010, Peoples R China; [Su, Dongyun] Chongqing Med Univ, Affiliated Hosp 2, Dept Neurol, Chongqing, Peoples R China; [Chen, Yanrong] Chongqing Med Univ, Affiliated Hosp 2, Dept Endocrinol, Chongqing, Peoples R China; [Li, Yue] Chongqing Med Univ, Affiliated Hosp 2, Dept Lab, Chongqing, Peoples R China"

通信作者："Chen, S (通讯作者)，Chongqing Med Univ, Affiliated Hosp 2, Dept Hematol, 74 Linjiang Rd, Chongqing 40010, Peoples R China."

来源：BLOOD COAGULATION & FIBRINOLYSIS

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000924478500006

JCR分区：Q4

影响因子：1.1

年份：2022

卷号：33

期号：8

开始页：468

结束页：472

文献类型：Article

关键词：asymptomatic; F7 gene; factor VII deficiency; mutation

摘要："The congenital factor VII deficiency (FVIID) is a rare autosomal recessive haemorrhagic disease caused by mutations in the F7 gene. The aim of this study was to identify the mutations causing FVII deficiency and explain the genotype-phenotype association in two unrelated Chinese patients. Mutation detection was conducted by sequencing the whole F7 gene coding exons, exon-intron boundaries and the untranslated regions of 3 ' and 5 '. Then, the genetic information was analyzed to predict the structures of the mutated proteins. A total of four different mutations were detected, including three missense mutations (c.64G>A, c.286A>G, and c.722C>A, predicting p.Gly22Ser, p.Arg96Gly, p.Thr241Asn, respectively) and one insertion mutation (c.204_205insCGGC, predicting p. Leu68Argfs*37), among which two were reported for the first time (p.Arg96Gly, p.Leu68Argfs*37). Multiple sequence alignments of FVII protein revealed that the residues p.Arg96 and p.Thr241 were highly conserved. The novel missense mutation p.Arg96Gly was determined as damaging with online software Polyphen-2 and SIFT. We investigated two asymptomatic patients diagnosed with severe FVII deficiency and identified two novel mutations (the mutation p.Arg96Gly and p.Leu68Argfs*37). Identification of the F7 mutations was important for genetic counseling and accurate prediction of the inheritance pattern. Copyright (c) 2022 Wolters Kluwer Health, Inc. All rights reserved."

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