Vitiello, Giuseppina (2020) Clinical and molecular characterization of corpus callosal abnormalities: toward a better understanding of their genetic basis. [Tesi di dottorato]

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Introduction: Corpus callosum abnormalities (CCA) have an estimated prevalence ranging from 0.3% up to 0.7% in patients undergoing brain imaging. CCA can be identified incidentally, or can be part of a developmental disease. Materials and Methods: We performed a retrospective study of 556 patients, identified non-syndromic (NS) CCA and syndromic (S) CCA, reviewing clinical features, neuroradiological aspects, genetic etiology, and chromosomal microarray (CMA) results. Results: Syndromic CCA subjects were prevalent (60%) and they showed the most severe clinical features. Cortical malformations and cerebellar anomalies were 20% of cerebral malformation associated to CCA (plus), A clinical and/or genetic diagnosis was obtained in 37% of syndromic CCA including chromosomal rearrangements on high-resolution karyotype (18%), microdeletion/microduplication syndromes (31%) and monogenic diseases (51 %). Non-syndromic CCA anomalies had mildest clinical features, although intellectual disability was present in 55% of cases and epilepsy in 13%. CMA diagnostic rate in our cohort of patients ranged from 2% to 23% (NS to S). WES analysis was performed in very few selected cases of syndromic CCA allowing the identification of new causative genes. Conclusion: A high percentage of patients remain without a diagnosis. Combined high resolution CMA studies and next-generation sequencing (NGS) strategies will increase the probability to identify new causative genes of CCA and to redefine genotype-phenotype correlation.

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