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Investigation of MR patients with 3p aberrations led to the identification of the translocation breakpoint in intron five of the neural  Cell Adhesion L1-Like  ( CALL or CHL1 ) gene in a man with non-specific mental retardation and 46,Y, t(X;3)(p22.1;p26.3). The Xp breakpoint does not seem to affect a known or predicted gene. Moreover, a fusion transcript with the  CALL  gene could not be detected and no mutations were identified on the second allele.  CALL  is highly expressed in the central and peripheral nervous system, like the mouse ortholog ‘ close homolog to L1 ’ ( Chl1 ).  Chl1  expression levels in the hippocampus of  Chl1  +/−  mice were half of those obtained in wild-type littermates, reflecting a gene dosage effect. Timm staining and synaptophysin immunohistochemistry of the hippocampus showed focal groups of ectopic mossy fiber synapses in the lateral CA3 region, outside the trajectory of the infra-pyramidal mossy fiber bundle in  Chl1  −/−  and  Chl1  +/−  mice. Behavioral assessment demonstrated mild alterations in the  Chl1  −/−  animals. In the probe trial of the Morris Water Maze test,  Chl1  −/−  mice displayed an altered exploratory pattern. In addition, these mice were significantly more sociable and less aggressive as demonstrated in social exploration tests. The  Chl1  +/−  mice showed a phenotypic spectrum ranging from wild-type to knockout behavior. We hypothesize that a 50% reduction of  CALL  expression in the developing brain results in cognitive deficits. This suggests that the  CALL  gene at 3p26.3 is a prime candidate for an autosomal form of mental retardation. So far, mutation analysis of the  CALL  gene in patients with non-specific MR did not reveal any disease-associated mutations.

CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior