Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders
- González Morón, Dolores
- Vishnopolska, Sebastián Alexis
- Consalvo, Damian
- Medina, Nancy
- Marti, Marcelo Adrian
- Córdoba, Marta
- Vazquez Dusefante, Cecilia
- Claverie, Santiago
- Rodríguez Quiroga, Sergio Alejandro
- Vega, Patricia
- Silva, Walter
- Kochen, Sara Silvia
- Kauffman, Marcelo Andres
DOIAbstract
Neuronal migration disorders are a clinically and genetically heterogeneous group of malformations of cortical development, frequently responsible for severe disability. Despite the increasing knowledge of the molecular mechanisms underlying this group of diseases, their genetic diagnosis remains unattainable in a high proportion of cases. Here, we present the results of 38 patients with lissencephaly, periventricular heterotopia and subcortical band heterotopia from Argentina. We performed Sanger and Next Generation Sequencing (NGS) of DCX, FLNA and ARX and searched for copy number variations by MLPA in PAFAH1B1, DCX, POMT1, and POMGNT1. Additionally, somatic mosaicism at 5% or higher was investigated by means of targeted high coverage NGS...
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