Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.

Tiziano Pramparo, Salvatore Grosso, Jole Messa, Adriana Zatterale, Maria Clara Bonaglia, Luciana Chessa, Paolo Balestri, Mariano Rocchi, Orsetta Zuffardi, Roberto Giorda

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)76-81
Number of pages6
JournalHuman Genetics
Volume118
Issue number1
Publication statusPublished - Oct 2005

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Pramparo, T., Grosso, S., Messa, J., Zatterale, A., Bonaglia, M. C., Chessa, L., Balestri, P., Rocchi, M., Zuffardi, O., & Giorda, R. (2005). Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy. Human Genetics, 118(1), 76-81.