A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies.
We describe a Japanese family with familial platelet disorder with propensity to develop myeloid malignancies (FPD/MM). Among the three affected individuals, two members developed myeloid malignancies. Sequence studies demonstrate that all affected individuals of the pedigree display a heterozygous single nucleotide deletion in exon 8 of the RUNX1 gene.
Kirito
Keita
K
Sakoe
Kumi
K
Shinoda
Daisuke
D
Takiyama
Yoshihisa
Y
Kaushansky
Kenneth
K
Komatsu
Norio
N
D000328:Adult; D001791:Blood Platelet Disorders / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics*; D015533:Transcriptional Activation
D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human