Whole-exome sequencing confirmation of a novel heterozygous mutation in RUNX1 in a pregnant woman with platelet disorder.
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.419 G > 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.
Department of Obstetrics and Gynecology, Yamagata University Faculty of Medicine , Yamagata , Japan and.
Miyuki
M
Obata
Seiji
S
Tsutsumi
Satoshi
S
Makino
Kanako
K
Takahashi
Norikazu
N
Watanabe
Takayuki
T
Yoshida
Gen
G
Tamiya
Hirohisa
H
Kurachi
D000328:Adult; D001791:Blood Platelet Disorders / Q000150:complications*; D001792:Blood Platelets / Q000276:immunology*; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics* / Q000378:metabolism*; D059472:Exome / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D055815:Young Adult
D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human
FPD/AML; Platelet disorder; RUNX1; pregnancy