title: Two new mutations at ERGIC-53 gene in a Turkish family.
abstract: 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.
authors.affiliation: Ankara University, School of Medicine, Pediatric Genetics Department, Ankara, Turkey. didemtorun@gmail.com
authors.forename: Didem
authors.initials: D
authors.lastname: Torun
authors.forename: Erkan
authors.initials: E
authors.lastname: Yilmaz
authors.forename: Avni
authors.initials: A
authors.lastname: Atay
authors.forename: Emin
authors.initials: E
authors.lastname: Kürekçi
authors.forename: Nejat
authors.initials: N
authors.lastname: Akar
mesh_terms: D018389:Codon, Nonsense; D004721:Endoplasmic Reticulum / Q000235:genetics / Q000378:metabolism; D005091:Exons / Q000235:genetics*; D005166:Factor V Deficiency / Q000235:genetics / Q000378:metabolism; D005190:Family; D005260:Female; D006056:Golgi Apparatus / Q000235:genetics / Q000378:metabolism; D006467:Hemophilia A / Q000235:genetics / Q000378:metabolism; D006801:Humans; D066298:In Vitro Techniques; D008297:Male; D037241:Mannose-Binding Lectins / Q000235:genetics* / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D021381:Protein Transport / Q000235:genetics; D014421:Turkey; D033921:Vesicular Transport Proteins / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; C084004:LMAN1 protein, human; C475146:MCFD2 protein, human; D037241:Mannose-Binding Lectins; D008565:Membrane Proteins; D033921:Vesicular Transport Proteins