Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy |
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| Authors: | Tiziano Pramparo Salvatore Grosso Jole Messa Adriana Zatterale Maria Clara Bonaglia Luciana Chessa Paolo Balestri Mariano Rocchi Orsetta Zuffardi Roberto Giorda |
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| Institution: | (1) Biologia Generale e Genetica Medica, University of Pavia, Pavia, Italy;(2) Department of Pediatrics, University of Siena, Siena, Italy;(3) ASL Napoli 1, Napoli, Italy;(4) IRCCS E. Medea, 20, v. don Luigi Monza, Bosisio Parini, LC, 23842, Italy;(5) Dipartimento di Medicina Sperimentale e Patologia, University La Sapienza, Roma, Italy;(6) Dip. di Genetica e Microbiologia, University of Bari, Bari, Italy;(7) IRCCS Policlinico San Matteo, Pavia, Italy |
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| 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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