Abstract
The human AF9/MLLT3 gene is a common fusion partner for the MLL gene in translocations t(9;11)(p22;q23) associated with acute myeloid leukemia and acute lymphocytic leukemia. The exact function of the gene is still unknown, although a mouse knock-out model points to a role as a controller of embryo patterning. We report the case of a constitutional translocation t(4;9)(q35;p22) disrupting the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia and epilepsy. Array-CGH analysis at 1 Mbase resolution did not reveal any additional deletions/duplications. We hypothesize a loss-of-function mutation of the AF9/MLLT3 gene, and a possible role for the FAT gene on chromosome 4, in the genesis of the proband’s severe neurological phenotype.
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Acknowledgements
We are grateful to the YAC Screening Centre of San Raffaele Biomedical Science Park (Milan) for providing BAC clones. This work was supported by cofin03-MIUR (to OZ), cofin04-MIUR, the FIRB 2001(to O Z), the Italian Telethon Foundation (GP0247Y01 to OZ) and the Cariplo Foundation (to OZ).
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Pramparo, T., Grosso, S., Messa, J. et al. Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy. Hum Genet 118, 76–81 (2005). https://doi.org/10.1007/s00439-005-0004-1
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DOI: https://doi.org/10.1007/s00439-005-0004-1