Identification of a 7‐Gene Panel by Sanger Sequencing for Inherited Coagulation Factor x Disorders

Saeedifar, Mohammad; Karimi, Gilda; Angaji, SeiedAbdolmajid; Zafarghandi Motlagh, Fatemeh; Bagherian, Hamideh; Rafatiyan, Sajad; Shirzadeh, Tina

Identification of a 7‐Gene Panel by Sanger Sequencing for Inherited Coagulation Factor x Disorders

Document Type : Article

Authors

¹ Department of Biology, Kharazmi University, karaj, Iran. Dr. Zeinali’s Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St, Tehran 1595645513, Iran

² Department of Biology, Kharazmi University, karaj, Iran

³ Dr. Zeinali’s Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St, Tehran 1595645513, Iran

⁴ Dr. Zeinali’s Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St, Tehran 1595645513, Iran. Department of Biotechnology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran

Abstract

Introduction: Problems with coagulation factor X (FX) inherited in families. Consanguineous marriage is common in Iran, therefore one may predict a greater prevalence rate there than in the Western populations. FX represent a category of very uncommon bleeding diseases caused by defects in the factor X (F 10) gene. Blood clots can't form without factor X, an essential protein in the coagulation cascade. Factor X deficiencies or abnormalities may cause aberrant bleeding behaviors and provide substantial clinical management problems. Autosomal recessive inheritance pattern characterizes the F10 gene.
Methods: To examine potential deleterious effects on encoded proteins, in silico approaches were applied. All exons and their boundaries of patients sample were sequenced using Sanger sequencing. Members of the family were also tested.
Results: F10 gene sequencing revealed several novel mutations. In addition, the disease-causing properties of the identified mutations were validated via segregation analysis and in-silico evaluations.
Conclusion: Inherited coagulation factor X disorder is a rare bleeding disorder caused by FX protein deficiency or absence. These results would help affected families and those who are carriers for similar mutations. Prevention of morbidity and improvement of affected people' quality of life depends on prompt diagnosis and effective care.

Graphical Abstract