G2Cdb::Allele report

Mutation type
TF

Altered genes (1)

Gene Symbol Species Description
G00002371 CALM1 Homo sapiens calmodulin 1 (phosphorylase kinase, delta)

Diseases (1)

Disease Description Nervous effect
D00000103 Leukaemia N

Literature (1)

Pubmed - human_disease

  • Dual-color split signal fluorescence in situ hybridization assays for the detection of CALM/AF10 in t(10;11)(p13;q14-q21)-positive acute leukemia.

    La Starza R, Crescenzi B, Krause A, Pierini V, Specchia G, Bardi A, Nieddu R, Ariola C, Nanni M, Diverio D, Aventin A, Sborgia M, Martelli MF, Bohlander SK and Mecucci C

    Hematology and Bone Marrow Transplantation Unit, Policlinico Monteluce, via Brunamonti, 06122 Perugia, Italy.

    We developed dual-color split fluorescence in situ hybridization (FISH) assays to detect AF10 and/or CALM rearrangements. Among nine cases of acute leukemia with translocation breakpoints at 10p13 and 11q14-21, a CALM/AF10 rearrangement was found in seven and was confirmed by reverse transcriptase polymerase chain reaction (RT-PCR) in all. In 2/7 cases, FISH detected CALM/AF10 in extramedullary leukemic infiltrations in the mediastinum and breast. As expected, FISH was less sensitive than RT-PCR for disease monitoring of CALM-AF10 positive cases. This new FISH assay reliably discriminates between MLL/AF10 and CALM/AF10 genomic rearrangements, identifies variant and complex CALM/AF10 translocations and detects the CALM/AF10 rearrangement in extramedullary leukemic infiltrations.

    Haematologica 2006;91;9;1248-51

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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