Whole-exome sequencing confirmation of a novel heterozygous mutation in RUNX1 in a pregnant woman with platelet disorder. (June 2015)

• Record Type: Journal Article
• Authors: Obata, Miyuki; Tsutsumi, Seiji; Makino, Satoshi; Takahashi, Kanako; Watanabe, Norikazu; Yoshida, Takayuki; Tamiya, Gen; Kurachi, Hirohisa
• Is Part Of: Platelets. Volume 26:Number 4(2015:Jun.)
• Page Start: 364
• Page End: 369
• Publication Date: 2015-06
• Subjects: Blood platelets -- Periodicals; Blood Platelets -- Periodicals; 615.39
• DOI: 10.3109/09537104.2014.912750
• Languages: English
• ISSNs: 0953-7104

Abstract

<abstract> <title>Abstract</title> <p>We describe a successful pregnancy and delivery in a patient with platelet disorder. Prophylactic platelet transfusions ensured that there were no bleeding complications during and after cesarean section. Following delivery, we performed whole exome sequencing, using next generation sequencing, to analyze the DNA samples of the patient and her family, and to identify the disease-causing mutation or variant. To identify <italic>de-novo</italic> mutations systematically, we also analyzed DNA isolated from the parents of the patient and the neonate. We successfully identified a causative novel mutation c.419 G &gt; A (p.S140N) in <italic>RUNX1</italic> in the patient and the neonate. Mutations of <italic>RUNX1</italic> have been reported to be associated with familial platelet disorder and with a predisposition for myelodysplasia and/or acute myeloid leukemia. The patient and the neonate require careful long-term hematological follow-up. Identification of mutations by a through whole-exome analysis using next-generation sequencing may be useful in the determination of a long-term follow-up schedule for the patient.</p> </abstract>