Compound Heterozygous Mutations in the F7 Gene in 2 Unrelated Families With Congenital Factor VII Deficiency

Factor VII (FVII) deficiency is a rare bleeding disorder normally caused by homozygous and compound heterozygous mutations in the F7 gene. Whole-exome sequencing was performed to identify F7 mutations in 3 individuals from 2 unrelated families who were diagnosed with FVII deficiency. Four compound h...

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Bibliographic Details
Published inJournal of pediatric hematology/oncology Vol. 43; no. 8; p. e1059
Main Authors Ma, Cui, Wang, Yue, Gao, Haidi, Xue, Lu, Wu, Shuangshuang, Xu, Xijing, Zhang, Huichao, Li, Chunhuai
Format Journal Article
LanguageEnglish
Published United States 01.11.2021
Subjects
Adolescent
Child
Factor VII - genetics
Factor VII Deficiency - congenital
Factor VII Deficiency - genetics
Factor VII Deficiency - pathology
Family
Female
Heterozygote
Humans
Male
Mutation
Prognosis
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Summary:Factor VII (FVII) deficiency is a rare bleeding disorder normally caused by homozygous and compound heterozygous mutations in the F7 gene. Whole-exome sequencing was performed to identify F7 mutations in 3 individuals from 2 unrelated families who were diagnosed with FVII deficiency. Four compound heterozygous mutations were identified and validated in these 3 probands with FVII deficiency. Among the 4 identified mutations, NM_000131.4:c.572-1_581del, NM_000131.4:c.1250A>G (p.Tyr417Cys), and NM_000131.4:c.647G>T (p.Gly216Val) were novel. All 3 novel mutations were predicted to be likely pathogenic by the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines.
ISSN:1536-3678
DOI:10.1097/MPH.0000000000002057