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Introduction: Mutations inthe LIS1 gene contained  in the lissencephaly critical region (LCR) situated in band p13.3 of the short arm ofchromosome 17,  have been related tomultiple CNS malformations, as well as other related genes like PAFR, PAFAH1B2,PAFAH1B3, YWHAE,TUSC5, MYO1C, CRK, EN2, FGF8 y PAX2 (LCR-panel). Performing DNA andtranscriptional studies (LCR-panel) in patients with common features likemental retardation and/or epilepsy altogether with CNS malformations, we aimedto find a closer relationship between some gene mutations and the patient’sphenotype.            Patientsand methods: We have compared the LCR-panelmutation prevalence in patients with mental retardation/psychomotor delayand/or epilepsy, with CNS structural abnormalities (Study Group, SG), versus acontrol group (CG). From a compulsory referential area of 33.281 children(<15 y.o.), we included 109 consecutive patients in the Study Group (SG), referredto our outpatients’ clinic of a University Hospital. All of them were submittedto a neurological examination, EEG, which results were registered asindependent variables. All of these patients and 224 healthy controls (CG) werestudied by means of PCR techniques for DNA mutations and for LCRtranscriptional errors (LCR-panel) Results: Fifteen out of 109 patients met exclusioncriteria during the study. From the remaining 94 patients (SG), 46 were LCR-panel (+) while none of the CG was. (c2=128.15; p=0.0000000000). Conclusions: Mutations in the LCR-panel, were significantly more prevalent amongpatients suffering from some degree of mental retardation and/or epilepsy, associatingCNS structural abnormalities than the general population.

LIS1; Lissencephaly; Mental Retardation; Epilepsy.