Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy
Copyright policy )Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy
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.
- Roma Tre University Italy
- Sapienza University of Rome Italy
- University of Siena Italy
- University of Bari Aldo Moro Italy
- University of Pavia Italy
Epilepsy, Base Sequence, Cerebellar Ataxia, Developmental Disabilities, Chromosome Mapping, Nuclear Proteins, Nucleic Acid Hybridization, Mutation, Humans, Female, Child, Oligonucleotide Array Sequence Analysis
Epilepsy, Base Sequence, Cerebellar Ataxia, Developmental Disabilities, Chromosome Mapping, Nuclear Proteins, Nucleic Acid Hybridization, Mutation, Humans, Female, Child, Oligonucleotide Array Sequence Analysis
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