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Current Knowledge on the Genetics of Autism and Propositions for Future Research

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Current Knowledge on the Genetics of Autism and Propositions for Future Research Current knowledge on the genetics of autism and propositions for future research. Thomas Bourgeron To cite this version: Thomas Bourgeron. Current knowledge on the genetics of autism and propositions for future research.. Comptes Rendus Biologies, Elsevier Masson, 2016, 339 (7-8), pp.300-7. 10.1016/j.crvi.2016.05.004. pasteur-01578113 HAL Id: pasteur-01578113 https://hal-pasteur.archives-ouvertes.fr/pasteur-01578113 Submitted on 28 Aug 2017 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Distributed under a Creative Commons Attribution - NonCommercial - NoDerivatives| 4.0 International License C. R. Biologies 339 (2016) 300–307 Contents lists available at ScienceDirect Comptes Rendus Biologies w ww.sciencedirect.com Trajectories of genetics, 150 years after Mendel/Trajectoires de la ge´ne´tique, 150 ans apre`s Mendel Current knowledge on the genetics of autism and propositions for future research Les connaissances actuelles sur la ge´ne´tique de l’autisme et propositions pour la recherche future a,b,c, Thomas Bourgeron * a Human Genetics and Cognitive Functions Unit, Institut Pasteur, 75015 Paris, France b CNRS UMR3571, Genes, Synapses and Cognition, Institut Pasteur, 75015 Paris, France c Human Genetics and Cognitive Functions, Paris Diderot University, Sorbonne Paris Cite´, 75013 Paris, France A R T I C L E I N F O A B S T R A C T Article history: Autism spectrum disorders (ASD) are a heterogeneous group of neuropsychiatric disorders Received 26 March 2016 characterized by problems in social communication, as well as by the presence of Accepted after revision 24 April 2016 restricted interests, stereotyped and repetitive behaviours. In the last 40 years, genetic Available online 8 June 2016 studies have provided crucial information on the causes of ASD and its diversity. In this article, I will first review the current knowledge on the genetics of ASD and then suggest Keywords: three propositions to foster research in this field. Twin and familial studies estimated the Autism Spectrum disorders heritability of ASD to be 50%. While most of the inherited part of ASD is captured by Twin studies common variants, our current knowledge on the genetics of ASD comes almost exclusively Heritability from the identification of highly penetrant de novo mutations through candidate gene or CNV whole exome/genome sequencing studies. Approximately 10% of patients with ASD, SNV especially those with intellectual disability, are carriers of de novo copy-number (CNV) or Synapse single nucleotide variants (SNV) affecting clinically relevant genes for ASD. Given the function of these genes, it was hypothesized that abnormal synaptic plasticity and failure of neuronal/synaptic homeostasis could increase the risk of ASD. In addition to these discoveries, three propositions coming from institutions, researchers and/or communities of patients and families can be made to foster research on ASD: (i) to use more dimensional and quantitative data than diagnostic categories; (ii) to increase data sharing and research on genetic and brain diversity in human populations; (iii) to involve patients and relatives as participants for research. Hopefully, this knowledge will lead to a better diagnosis, care and integration of individuals with ASD. ß 2016 Acade´mie des sciences. Published by Elsevier Masson SAS. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/ 4.0/). * Human Genetics and Cognitive Functions Unit, Institut Pasteur, Paris, France. E-mail address: [email protected]. http://dx.doi.org/10.1016/j.crvi.2016.05.004 1631-0691/ß 2016 Acade´mie des sciences. Published by Elsevier Masson SAS. This is an open access article under the CC BY-NC-ND license (http:// creativecommons.org/licenses/by-nc-nd/4.0/). T. Bourgeron / C. R. Biologies 339 (2016) 300–307 301 R E´ S U M E´ Mots cle´s : Les troubles du spectre autistique (TSA) sont un groupe he´te´roge`ne de troubles Troubles du spectre autistique neuropsychiatriques caracte´rise´s par des proble`mes de communication sociale, ainsi E´tudes de jumeaux que par la pre´sence d’inte´reˆts restreints et de comportements ste´re´otype´s et re´pe´titifs. Au He´ritabilite´ cours des 40 dernie`res anne´es, les e´tudes ge´ne´tiques ont fourni des informations cruciales CNV ´ SNV sur les causes des TSA et leurs diversites. Dans cet article, je vais d’abord examiner les Synapse connaissances actuelles sur la ge´ne´tique des TSA, puis sugge´rer trois propositions pour encourager la recherche dans ce domaine. Les e´tudes familiales et de jumeaux ont permis d’estimer l’he´ritabilite´ des TSA a` 50 %. Alors que la plupart de la partie he´rite´e des TSA est due a` des variants communs, nos connaissances actuelles sur la ge´ne´tique des TSA vient presque exclusivement de l’identification de mutations de novo tre`s pe´ne´trantes a` l’aide d’e´tudes de ge`nes candidats ou de se´quenc¸age d’exome/ge´nome entier. Environ 10 % des patients atteints de TSA, en particulier ceux qui ont une de´ficience intellectuelle, sont porteurs de mutations de novo de nombre de copies (CNV) ou de changements de nucle´otides (SNV) affectant des ge`nes cliniquement pertinents pour les TSA. Compte tenu de la fonction de ces ge`nes, il a e´te´ e´mis l’hypothe`se qu’une plasticite´ synaptique anormale et un de´faut de l’home´ostasie neuronale/synaptique pourrait augmenter le risque de TSA. En plus de ces de´couvertes, trois propositions provenant des institutions, des chercheurs et/ou des communaute´s de patients et des familles peuvent eˆtre formule´es pour encourager la recherche sur les TSA : (i) utiliser des donne´es plus dimensionnelles et quantitatives que les cate´gories de diagnostic ; (ii) augmenter le partage des donne´es et la recherche sur la diversite´ ge´ne´tique et le cerveau dans les populations humaines ; (iii) impliquer les patients et leurs familles en tant que participants a` la recherche. En espe´rant que cette connaissance conduira a` de meilleurs diagnostics, de meilleurs soins et une meilleure inte´gration des personnes atteintes de TSA. ß 2016 Acade´mie des sciences. Publie´ par Elsevier Masson SAS. Cet article est publie´ en Open Access sous licence CC BY-NC-ND (http://creativecommons.org/licenses/by-nc-nd/ 4.0/). 1. Introduction shown that common genetic variants could capture almost all the heritability of ASD [5]. The genetic landscape of ASD Autism spectrum disorders (ASD) are a group of is therefore shaped by a complex interplay between neuropsychiatric disorders characterized by problems in common and rare variants and is most likely different social communication, as well as the presence of restricted from one individual to another [6]. Remarkably, the interests, stereotyped and repetitive behaviours [1,2]. Epi- susceptibility genes seem to converge in a limited number demiological studies estimate that more than 1% of the of biological pathways including chromatin remodelling, population could receive a diagnosis of ASD [3]. Individuals protein translation, actin dynamics, and synaptic functions with ASD can also suffer from other psychiatric and [6]. medical conditions including intellectual disability (ID), In this chapter, I will detail the advances of the genetics epilepsy, motor control difficulties, attention-deficit hy- of ASD in the last four decades starting from twin studies, peractivity disorder (ADHD), tics, anxiety, sleep disorders, following with molecular genetics and neurobiological depression or gastrointestinal problems [4]. The term studies (Fig. 1) and end with propositions to foster research ESSENCE for ‘Early Symptomatic Syndromes Eliciting in this field. Neurodevelopmental Clinical Examinations’ was coined by Christopher Gillberg to take into account this clinical 2. Twin and family studies in ASD heterogeneity and syndrome overlap [4]. There are 4–8 times more males than females in ASD, but the sex ratio is Based on more than 13 twin studies, published between more balanced in patients with ID and/or dysmorphic 1977 and 2015, researchers have estimated the genetic and features. Autism can be studied as a category (affected environmental contribution to ASD (Fig. 2). In 1977, the vs. unaffected) or as a quantitative trait using auto- or first twin study of autism by Folstein and Rutter reported a hetero-questionnaires such as the social responsiveness cohort of 11 monozygotic (MZ) twins and 10 dizygotic (DZ) scale (SRS) or the autism quotient (AQ). Using these tools, twins. This study showed that MZ twins were more autistic traits seem to be normally distributed in clinical concordant for autism in 36% (4/11) compared with 0% cases as well as in the general population. (0/10) for DZ twins. When a ‘‘broader autism phenotype’’ The causes of autism remain largely unknown, but twin was used, the concordance increased to 92% for MZ twins studies have constantly shown a high genetic contribution and to 10% for DZ twins. Since this first small-scale study, to ASD. Molecular genetic studies have identified more twin studies have constantly reported higher concordance than 100 ASD-risk genes carrying rare and penetrant for ASD in MZ compared with DZ twins. Between 2005 and deleterious mutations in approximately 10–25% of the 2009, three twin studies with relatively large group of patients [5]. In addition, quantitative genetic studies have twins (up to more than 3000 twin pairs) have reported 302 T.
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