CALL interrupted in a @entity1 with non-specific @entity1032 : gene dosage-dependent alteration of XXXX brain development and behavior.

@entity1 @entity1032 @entity146 @entity19 @entity73 @entity72262 @entity43851
Investigation of MR @entity1 with 3p aberrations led to the identification of the translocation breakpoint in intron five of the neural Cell Adhesion L1-Like (CALL or @entity43851 ) gene in a @entity1 with non-specific @entity1032 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 @entity19 ortholog 'close homolog to L1' ( @entity72262 ). @entity72262 expression levels in the hippocampus of @entity72262 (+/-) @entity19 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 @entity72262 (-/-) and @entity72262 (+/-) @entity19 . Behavioral assessment demonstrated mild alterations in the @entity72262 (-/-) animals. In the probe trial of the Morris Water Maze test, @entity72262 (-/-) @entity19 displayed an altered exploratory pattern. In addition, these @entity19 were significantly more sociable and less @entity146 as demonstrated in social exploration tests. The @entity72262 (+/-) @entity19 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 @entity73 . This suggests that the CALL gene at 3p26.3 is a prime candidate for an autosomal form of @entity1032 . So far, mutation analysis of the CALL gene in @entity1 with non-specific MR did not reveal any disease-associated mutations.
