%0 Journal Article
%T L1CAM - A Neural Cell Adhesion Molecule Implicated in X-linked Mental Retardation
%A Andrea Mary.F
%A Maheshwari.T
%A Solomon F.D. Paul
%J Advanced Biotech
%D 2013
%I 
%X Mental retardation is a distressive clinical condition characterised by non- progressive impaired cognitive function. In India the prevalence of mental retardation is 6.9%. The genetic cause of mental retardation is challenging due to its complexity in aetiology and heterogeneity. Recent breakthrough have shown that L1CAM gene is responsible for the mental retardation conditions, as this gene codes for the protein molecules involved in signalling pathways, coordinates a network of activities ranging from the stabilization, establishment and remodelling of connections, which regulate cytoskeleton organisation and synaptic vesicle transportation. Dysfunction of the L1CAM genes causes a spectrum of congenital neurological disorders, arraying from congenital hydrocephalus to mental retardation. To date this is the first report of L1CAM gene mutational analysis in the mutation rich or hot spot region between nucleotides 13,773 (exon 26) and 14,048 (exon 27) and region between nucleotides 13,871(exon 26) and 14,158 (intron 27) conducted in 50 south Indian mentally retarded subjects and 50 age matched control samples. Here we report, genotyping of 50 mentally retarded subjects and 50 control subjects has revealed mutations in 8 out of 50 mentally challenged participants. The percentage of deletion of L1CAM gene is determined to be 4.0. The findings are discussed, as they provide insight in to the L1 function and related phenotype and this suggests that genetic alterations in LI gene possibly be the frequent cause of mental retardation.
%K Mental retardation
%K L1CAM
%K gene
%K Deletion.
%U http://www.advancedbiotech.in/656.pdf