t(7;12)(p12;q13) HMGA2 truncated

2005-05-01   Jean-Loup Huret  

1.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 IDLast YearTitleAuthors
156189632005Disruption 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/case-report-explorer/css/lib/teaching-explorer/gene-fusions-explorer/