Clinical Phenotype and Genetic Analysis of Twins With Congenital Coagulation Factor V Deficiency
| Autor: | Yuzhuo He, Yan-Hui Wei, Xuejun Guo |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Proband
Heterozygote Foramen Ovale Patent Genetic analysis Humans Medicine Missense mutation Exome sequencing Activated Protein C Resistance Genetics Prothrombin time biology medicine.diagnostic_test business.industry Point mutation Microfilament Proteins Factor V Hematology Pedigree Phenotype Oncology Mutation Pediatrics Perinatology and Child Health biology.protein Calmodulin-Binding Proteins Factor V Deficiency business Partial thromboplastin time |
| Zdroj: | Journal of Pediatric Hematology/Oncology. 44:e482-e486 |
| ISSN: | 1077-4114 |
| DOI: | 10.1097/mph.0000000000002261 |
| Popis: | Objective The aim was to investigate the clinical characteristics and molecular pathogenic mechanism of twins with congenital factor V (FV) deficiency. Methods We comprehensively analyzed the clinical manifestations and laboratory test results of a set of twins and their parents and performed point mutation analysis with direct high-throughput exon sequencing. Results The prothrombin time and activated partial thromboplastin time were prolonged for both probands, and the FV activity levels were 13.0% and 9.8%. Next-generation sequencing showed that the affected individuals harbored a paternal c.5113A>C (p.S1705R) and a maternal c.4949C>T (p.A1650V) heterozygous variants in the FV gene, which conformed to an autosomal recessive inheritance pattern. This is the first report of these point mutations. The older boy also had a congenital patent foramen ovale. Conclusion In this set of twins, missense mutations of the FV gene were related to congenital FV deficiency but unrelated to the patent foramen ovale observed in the older boy. |
| Databáze: | OpenAIRE |
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