t(11;14)(q23;q24) KMT2A/GPHN

2002-04-01   Mariko Eguchi 

1.Leukaemia Research Fund Centre, Institute of Cancer Research, Chester Beatty Laboratories, 237 Fulham Road, London SW3 6JB, UK

Clinics and Pathology

Disease

AML and therapy related AL

Phenotype stem cell origin

monoblastic, unclassified

Epidemiology

Rare. Three cases reported so far.

Prognosis

Very poor. Less than 2 months survival in two cases.

Genes Involved and Proteins

Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
Dna rna description
36 exons, spans over 100kb, ORF 12kb.
Protein description
3969 amino acids; 431 kDa; contains two DNA binding motifs (a AT hook and a DNA methyltransferase homology motif), trithorax homology domains, zinc finger domains with features of PHD fingers and the C-terminal SET domain.
Gene name
GPHN (Gephyrin)
Location
14q23.3
Dna rna description
29 exons, spans approximately 800kb, ORF 2.3kb
Protein description
736 to 770 amino acids; 93-105 kDa; submembraneous scaffold protein that anchors glycine receptor to postsynaptic cytoskeletal elements through a putative microtubule binding motif. GPHN is also involved in molybdenum cofactor biosynthesis (MoaB, MogA and MoeA homology domain), and interacts with RAFT-1.

Result of the Chromosomal Anomaly

Description

5 MLL-3 GPHN on der (11)

Transcript

no GPHN-MLL reciprocal transcript
MLL-GPHN protein

Description

C-terminal half of GPHN, including the suspected putative microtubule binding motif and MoeA homology domain, is fused to the N-terminal portion of MLL.

Bibliography

Pubmed IDLast YearTitleAuthors

Summary

Fusion gene

KMT2A/GPHN KMT2A (11q23.3) GPHN (14q23.3) COF 1850 1851 1852|KMT2A/GPHN KMT2A (11q23.3) GPHN (14q23.3) TIC
Atlas Image
t(11;14)(q23;q24), G-banding

Citation

Mariko Eguchi

t(11;14)(q23;q24) KMT2A/GPHN

Atlas Genet Cytogenet Oncol Haematol. 2002-04-01

Online version: http://atlasgeneticsoncology.org/haematological/1198/js/lib/all.min.js