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.
Pramparo
Tiziano
T
Biologia Generale e Genetica Medica, University of Pavia, Pavia, Italy.
Grosso
Salvatore
S
Messa
Jole
J
Zatterale
Adriana
A
Bonaglia
Maria Clara
MC
Chessa
Luciana
L
Balestri
Paolo
P
Rocchi
Mariano
M
Zuffardi
Orsetta
O
Giorda
Roberto
R
D001483:Base Sequence; D002524:Cerebellar Ataxia / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D002658:Developmental Disabilities / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis
C489901:MLLT3 protein, human; D009687:Nuclear Proteins