A Novel Mutation in the GATA1 Gene Associated with Acute Megakaryoblastic Leukemia in a Korean Down Syndrome Patient
Journal of Korean Medical Science
;
: 1105-1108, 2008.
Article
in English
| WPRIM
| ID: wpr-36254
ABSTRACT
Although acquired mutations in the GATA1 gene have been reported for Down syndrome-related acute megakaryoblastic leukemia (DS-AMKL) in Caucasians, this is the first report of a Korean Down syndrome patient with AMKL carrying a novel mutation of the GATA1 gene. A 3-yr-old Korean girl with Down syndrome was admitted to our hospital complaining of pallor and fever. The findings of a peripheral blood smear and bone marrow study were compatible with the presence of AMKL. A chromosome study showed 48,XX,-7,+21c,+21,+r[3]/47,XX,+21c[17]. Following GATA1 gene mutation analysis, a novel mutation, c.145dupG (p.Ala49GlyfsX18), was identified in the N-terminal activation domain of the GATA1 gene. This mutation caused a premature termination at codon 67 and expression of an abnormal GATA-1 protein with a defective N-terminal activation domain, and the absence of full-length GATA-1 protein. This case demonstrates that a leukemogenic mechanism for DS-AMKL is contributed by a unique collaboration between overexpressed genes from trisomy 21 and an acquired GATA1 mutation previously seen in Caucasians and now in a Korean patient.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Trisomy
/
Chromosomes, Human, Pair 21
/
Base Sequence
/
Leukemia, Megakaryoblastic, Acute
/
Down Syndrome
/
GATA1 Transcription Factor
/
Karyotyping
/
Korea
/
Mutation
Type of study:
Prognostic study
Limits:
Child, preschool
/
Female
/
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2008
Type:
Article
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