Progress in the genetics of autism spectrum disorder

A genetic basis for autism spectrum disorder (ASD) is now well established, and with the availability of high-throughput microarray and sequencing platforms, major advances have been made in our understanding of genetic risk factors. Rare, often de novo, copy number and single nucleotide variants are both implicated, with many ASD-implicated genes showing pleiotropy and variable penetrance. Additionally, common variants are also known to play a role in ASD's genetic etiology. These new insights into the architecture of ASD's genetic etiology offer opportunities for the identification of molecular targets for novel interventions, and provide new insight for families seeking genetic counselling. What the paper adds A number of rare genetic variants are implicated in autism spectrum disorder (ASD), with some showing recurrence. Common genetic variants are also important and a number of loci are now being uncovered. Genetic testing for individuals with ASD offers the opportunity to identify relevant genetic etiology. Resumen Progreso en la genetica del trastorno del espectro autistaActualmente se ha establecido una base genetica para el trastorno del espectro autista (TEA) y, con la disponibilidad de plataformas de secuenciacion y microarrays de alto rendimiento, se han logrado avances importantes en nuestra comprension de los factores de riesgo geneticos. Raras, a menudo de novo, numero de copias y variantes de nucleotido unico estan implicadas, con muchos genes implicados en TEA que muestran pleiotropia y penetrancia variable. Ademas, tambien se sabe que las variantes comunes desempenan un papel en la etiologia genetica de TEA pero aun no se han identificado. Estos nuevos conocimientos sobre la arquitectura de la etiologia genetica de TEA ofrecen oportunidades para la identificacion de objetivos moleculares para intervenciones novedosas, y proporcionan una nueva perspectiva para las familias que buscan asesoramiento genetico. Resumo Progresso na genetica do transtorno do espectro autistaUma base genetica para o transtorno do espectro autista (TEA) agora esta bem estabelecida, e com a disponibilidade de plataformas de microarray de larga escala e de sequenciamento, grandes avancos tem sido feitos para a compreensAo dos fatores de risco geneticos. Variantes raras, frequentemente de novo, tanto de copia extra quanto de nucleotideos simples tem sido implicadas, com muitos genes relacionados ao TEA mostrando pleiotropia e penetrancia variavel. Adicionalmente, sabe-se que variantes comuns tambem desempenham um papel na etiologia genetica do TEA, mas ainda precisam ser identificadas. Estas novas descobertas sobre a arquitetura da etiologia genetica do TEA oferecem oportunidades para a identificacAo de alvos moleculares para novas intervencoes, e fornecem novas possibilidades para familias procurando aconselhamento genetico. What the paper adds A number of rare genetic variants are implicated in autism spectrum disorder (ASD), with some showing recurrence. Common genetic variants are also important and a number of loci are now being uncovered. Genetic testing for individuals with ASD offers the opportunity to identify relevant genetic etiology. This article's abstract has been translated into Spanish and Portuguese. Follow the links from the abstract to view the translations.