t(7;12)(p12;q13) HMGA2 truncated
2005-05-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
myelodysplastic syndrome (MDS)
Epidemiology
only 1 case to date: a 33 yr old female patient with RAEB1
Cytogenetics
sole anomaly in this patient
Prognosis
The patient remains asymptomatic 5 yr after presentation
Genes Involved and Proteins
Gene name
HMGA2 (high mobility group AT-hook 2)
Location
12q14.3
Protein description
probable role in regulation of cell proliferation (transcriptional regulation of cell cycle and DNA repair genes
Result of the Chromosomal Anomaly
Description
HMGA2 exon 3 spliced to intron 3 of the genetruncated HMGA2 (normal exons 1 to 3 followed by 12 amino acids from intron 3); ectopic expression of HMGA2
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15618963 | 2005 | Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies. | Odero MD et al |
Citation
Jean-Loup Huret
t(7;12)(p12;q13) HMGA2 truncated
Atlas Genet Cytogenet Oncol Haematol. 2005-05-01
Online version: http://atlasgeneticsoncology.org/haematological/1388/t(7;12)(p12;q13)-hmga2-truncated
