title: A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies.
abstract: 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.
authors.forename: Keita
authors.initials: K
authors.lastname: Kirito
authors.forename: Kumi
authors.initials: K
authors.lastname: Sakoe
authors.forename: Daisuke
authors.initials: D
authors.lastname: Shinoda
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Takiyama
authors.forename: Kenneth
authors.initials: K
authors.lastname: Kaushansky
authors.forename: Norio
authors.initials: N
authors.lastname: Komatsu
mesh_terms: 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
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human