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Etude clinique et génétique des anomalies du corps calleux chez le foetus

Abstract : Corpus callosum is the main cerebral commissure connecting homologous cortical areas in placental mammals. Malformations of corpus callosum (MCC) are the most frequent brain malformation at birth and are present in 5% of patients with neurodevelopmental delay. A good knowledge of genetics of corpus callosum development should pave the way to better clinical correlations for a more accurate genetic counselling. This is the challenge of the next decade. This thesis concerns a cohort of 138 fetuses with MCCs, well classified on neuropathological examination. It allowed 1/ to unravel the genetic causes of MCC through a triple approach combining CGH array, whole exome and NGS panels sequencing, with a considerable increase in the number of causes of MCC identified ; 2/ identification of a new gene in an extreme ciliopathy phenotype; and 3/ identification of novel ZBTB20 mutations , a gene recently identified as responsible for Primrose syndrome, showing that this syndrome is frequent among MCCs and allowing a precise clinico-radiological description of the syndrome. 4/ Several new candidate genes are under study.
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Caroline Alby-Averseng. Etude clinique et génétique des anomalies du corps calleux chez le foetus. Médecine humaine et pathologie. Université Sorbonne Paris Cité, 2015. Français. ⟨NNT : 2015USPCB002⟩. ⟨tel-01627568⟩



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