Whole-exome sequencing confirmation of a novel heterozygous mutation in RUNX1 in a pregnant woman with platelet disorder

Miyuki Obata, Seiji Tsutsumi, Satoshi Makino, Kanako Takahashi, Norikazu Watanabe, Takayuki Yoshida, Gen Tamiya, Hirohisa Kurachi

研究成果: Article査読

5 被引用数 (Scopus)

抄録

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 de-novo mutations systematically, we also analyzed DNA isolated from the parents of the patient and the neonate. We successfully identified a causative novel mutation c.419G>A (p.S140N) in RUNX1 in the patient and the neonate. Mutations of RUNX1 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.

本文言語English
ページ(範囲)364-369
ページ数6
ジャーナルPlatelets
26
4
DOI
出版ステータスPublished - 2015 6 1
外部発表はい

ASJC Scopus subject areas

  • 血液学

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