Two New Mutations at ERGIC-53 Gene in a Turkish Family

Torun D., YILMAZ E., Atay A., Kurekci E., Akar N.

CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS, cilt.17, sa.3, ss.248-250, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 17 Sayı: 3
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1177/1076029609355153
  • Dergi Adı: CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.248-250
  • Anahtar Kelimeler: combined FV and FVIII deficiency, ERGIC-53, bleeding, FACTOR-VIII DEFICIENCY, COMBINED FACTOR-V, SECRETORY PATHWAY, COMPLEX, LMAN1, JEWS
  • Ankara Üniversitesi Adresli: Evet

Özet

Combined factor V and factor VIII deficiency (F5F8D) is a rare autosomal recessive coagulation disorder associated with plasma levels of coagulation factors V and VIII approximately 5% to 30% normal. Combined factor V and factor VIII deficiency is caused by mutations in ERGIC-53 (LMAN1) gene. ERGIC-53 and multiple coagulation factor deficiency 2 (MCFD2) form a protein complex that functions as a cargo receptor transport FV and FVIII from the endoplasmic reticulum to the Golgi. The aim of this study was to determine the mutations of ERGIC-53 (endoplasmic reticulum [ER] to the ER-Golgi intermediate compartment) gene and combined F5F8D in a family. In this study, we analyzed a patient in a Turkish family with combined F5F8D. We found a nonsense mutation of C to T at nucleotide 202 in exon 9, resulting in a transition of arginine to stop codon, and in 1 child, we found a timine deletion in exon 4 in ERGIC-53 gene.