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Introduction: Genetic mutations of PROC and PROS1 are well‐known risk factors for deep venous thrombosis (DVT) in the Asian population. However, the genetic profile of Vietnamese patients with DVT remains elusive. This study aimed to investigate the spectrum of genetic mutations of these two genes in Vietnamese patients diagnosed with idiopathic DVT. Materials and methods: A total of 50 Vietnamese patients diagnosed with idiopathic DVT were recruited in this study. The entire coding regions of the protein C and protein S genes were amplified and directly sequenced to determine genetic alterations. Results: Four and six genetic mutations were detected in protein C and protein S genes, respectively, in 24 Vietnamese DVT patients. PROC c.565C > T (p.R189W) was the most common mutation found in 13 out of 50 patients, while the mutations of PROS1 comprised three missense and three nonsense variants which diffuse along the gene. Conclusions: This study shows that mutations of protein C and protein S genes are prevalent in Vietnamese patients diagnosed with idiopathic DVT, and PROC c.565C > T (p.R189W) was the most common genetic alteration. [ABSTRACT FROM AUTHOR]

Background: Charcot–Marie‐Tooth (CMT) disease is one of the most common hereditary neuropathies. Identifying causative mutations in CMT is essential as it provides important information for genetic diagnosis and counseling. However, genetic information of Vietnamese patients diagnosed with CMT is currently not available. Methods: In this study, we described the clinical profile and determined the mutation spectrum of CMT in a cohort of Vietnamese patients with CMT by using a combination of multiplex ligation‐dependent probe amplification and next‐generation sequencing targeting 11 genes PMP22, MPZ, EGR2, NEFL, MFN2, GDAP1, GARS, MTMR2, GJB1, RAB7A, LITAF. Results: In 31 CMT cases, the mutation detection rate was 42% and the most common genetic aberration was PMP22 duplication. The pedigree analysis showed two de novo mutations c.64C > A (p.P22T) and c.281delG (p.G94Afs*17) in the NEFL and PMP22 genes, respectively. Conclusion: The results of this study once again emphasize the important role of molecular diagnosis and provide preliminary genetic data on Vietnamese patients with CMT. [ABSTRACT FROM AUTHOR]