Essential genetic findings in neurodevelopmental disorders

• Autor(a) principal: Cardoso, Ana R.
• Data de Publicação: 2019
• Outros Autores: Lopes-Marques, Mónica, Silva, Raquel M., Serrano, Catarina, Amorim, António, Prata, Maria J., Azevedo, Luísa
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.14/32673
• topic: Brain-related genes; De novo mutations; Deleterious mutations; Gene interaction; Neurodevelopmental disorders; Polymorphisms; Risk alleles

Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a remarkably complex architecture that embraces genetic mutations of distinct types (chromosomal rearrangements, copy number variants, small indels, and nucleotide substitutions) with distinct frequencies in the population (common, rare, de novo). Such a network of interacting players creates difficulties in establishing rigorous genotype-phenotype correlations. Furthermore, individual lifestyles may also contribute to the severity of the symptoms fueling a large spectrum of gene-environment interactions that have a key role on the relationships between genotypes and phenotypes.Herein, a review of the genetic discoveries related to NDDs is presented with the aim to provide useful general information for the medical community.