. 2019; 36(1): 29-36 | DOI: 10.4274/tjh.galenos.2018.2018.0325 | |||
Alışılmadık Kanama Eğilimi ve Yetersiz Yara İyileşmesi Bulgularıyla Görülen Çekinik Kutis Laksaya Sebep Olan Yeni Bir ATP6V0A2 Mutasyonuİlker Karacan1, Reyhan Diz Küçükkaya2, Fatma Nur Karakuş3, Seyhun Solakoğlu3, Aslıhan Tolun4, Veysel Sabri Hancer5, Eda Tahir Turanlı61İstanbul Technical University, Graduate School of Science, Engineering and Technology, Department of Molecular Biology-Genetics and Biotechnology, İstanbul, Turkey; İstanbul Medeniyet University, Department of Molecular Biology and Genetics, İstanbul, Turkey2İstanbul Bilim University, Faculty of Medicine, Department of Hematology, İstanbul, Turkey 3İstanbul University, İstanbul Faculty of Medicine, Department of Histology and Embryology, İstanbul, Turkey 4Boğaziçi University, Department of Molecular Biology and Genetics, İstanbul, Turkey 5İstanbul Bilim University, Department of Molecular Biology and Genetics, İstanbul, Turkey 6İstanbul Technical University, Graduate School of Science, Engineering and Technology, Department of Molecular Biology-Genetics and Biotechnology, İstanbul, Turkey; İstanbul Technical University, Department of Molecular Biology and Genetics, İstanbul, Turkey Amaç: Otozomal çekinik kutis laksa tip IIA (ARCL2A) nadir görülen ve doğuştan bir hastalık olup, gevşek ve elastik deri, büyüme ve gelişme geriliği, iskelet anomalileri ile karakterizedir. ATP6V0A2 genindeki biallelik mutasyonlar hastalığa sebep olmaktadır. Bu mutasyonlar salgı veziküllerinde pH artışına yol açtığından, glikoziltransferaz aktivitesi ve organel trafiği bozulur. Bu çalışmada beklenmedik hematolojik bulguları da olan Türk ailede hastalığın genetik ve moleküler sebeplerinin bulunması amaçlanmıştır. A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healingİlker Karacan1, Reyhan Diz Küçükkaya2, Fatma Nur Karakuş3, Seyhun Solakoğlu3, Aslıhan Tolun4, Veysel Sabri Hancer5, Eda Tahir Turanlı61İstanbul Technical University, Graduate School of Science, Engineering and Technology, Department of Molecular Biology-Genetics and Biotechnology, İstanbul, Turkey; İstanbul Medeniyet University, Department of Molecular Biology and Genetics, İstanbul, Turkey2İstanbul Bilim University, Faculty of Medicine, Department of Hematology, İstanbul, Turkey 3İstanbul University, İstanbul Faculty of Medicine, Department of Histology and Embryology, İstanbul, Turkey 4Boğaziçi University, Department of Molecular Biology and Genetics, İstanbul, Turkey 5İstanbul Bilim University, Department of Molecular Biology and Genetics, İstanbul, Turkey 6İstanbul Technical University, Graduate School of Science, Engineering and Technology, Department of Molecular Biology-Genetics and Biotechnology, İstanbul, Turkey; İstanbul Technical University, Department of Molecular Biology and Genetics, İstanbul, Turkey Objective: Autosomal recessive cutis laxa type IIA (ARCL2A) is a rare congenital disorder characterized by loose and elastic skin, growth and developmental delay, and skeletal anomalies. It is caused by biallelic mutations in ATP6V0A2. Those mutations lead to increased pH in secretory vesicles and thereby to impaired glycosyltransferase activity and organelle trafficking. We aimed to identify the genetic and molecular cause of the unexpected hematological findings in a Turkish family. İlker Karacan, Reyhan Diz Küçükkaya, Fatma Nur Karakuş, Seyhun Solakoğlu, Aslıhan Tolun, Veysel Sabri Hancer, Eda Tahir Turanlı. A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing. . 2019; 36(1): 29-36 Sorumlu Yazar: Eda Tahir Turanlı, Türkiye |
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