De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Mirzaa, Ghayda; Chong, Jessica X.; Piton, Amélie; Popp, Bernt; Foss, Kimberly; Guo, Hui; Harripaul, Ricardo; Xia, Kun; Scheck, Joshua; Aldinger, Kimberly A.; Sajan, Samin A.; Tang, Sha; Bonneau, Dominique; Beck, Anita E.; White, Janson J.; Mahida, Sonal; Harris, Jacqueline; Smith‐Hicks, Constance; Hoyer, Juliane; Zweier, Christiane; Thiel, Christian T.; Jamra, Rami Abou; Zeid, Natasha; Yang, Amy; Farach, Laura S.; Walsh, Laurence E.; Payne, Katelyn; Rohena, Luis; Velinov, Milen; Ziegler, Alban; Schaefer, Eric; Gatinois, Vincent; Geneviève, David; Simon, Marleen; Kohler, Jennefer N.; Rotenberg, Joshua; Wheeler, Patricia G.; Larson, Austin; Ernst, Michelle; Akman, Cigdem I.; Westman, Rachel; Blanchet, P.; Schillaci, Lori-Anne; Vincent‐Delorme, Catherine; Gripp, Karen W.; Mattioli, Francesca; Guyader, Gwenaël Le; Gérard, Bénédicte; Mathieu‐Dramard, Michèle; Morin, Gilles; Sasanfar, Roksana; Ayub, Muhammad; Vasli, Nasim; Yang, Sandra; Person, Rick; Monaghan, Kristin G.; Nickerson, Deborah A.; Binsbergen, Ellen van; Enns, Gregory M.; Dries, Annika M.; Rowe, Leah J.; Tsai, Anne Chun-Hui; Svihovec, Shayna; Friedman, Jennifer; Agha, Zehra; Qamar, Raheel; Rodan, Lance H.; Martínez‐Agosto, Julian A.; Ockeloen, Charlotte W.; Vincent, Marie; Sunderland, William J.; Bernstein, Jonathan A.; Eichler, Evan E.; Vincent, John B.; Bamshad, Michael J.

doi:10.1038/s41436-019-0693-9

Cited by 30 publications

(27 citation statements)

References 26 publications

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“…Modern views define emotion in such a way that each individual emotion has evolved through evolutionary history by some kind of natural selection, i.e., by expanding the repertoire of behavior that leads to coordinated cognitive, physiological, and behavioral responses that increase the likelihood of survival and reproduction. Negative emotions (of fear, anxiety, pain, sadness, jealousy, grief, anger, guilt, shame) are mainly associated with increased likelihood of survival, while positive emotions are mostly associated with increased reproductive success and care for offspring (excitement, joy, pleasure, desire, hope, infatuation, pride, optimism, friendship, love) [ 235 , 236 ].…”

Section: Evolutionary Importance Of Emotionsmentioning

confidence: 99%

Molecules, Mechanisms, and Disorders of Self-Domestication: Keys for Understanding Emotional and Social Communication from an Evolutionary Perspective

et al. 2020

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The neural crest hypothesis states that the phenotypic features of the domestication syndrome are due to a reduced number or disruption of neural crest cells (NCCs) migration, as these cells differentiate at their final destinations and proliferate into different tissues whose activity is reduced by domestication. Comparing the phenotypic characteristics of modern and prehistoric man, it is clear that during their recent evolutionary past, humans also went through a process of self-domestication with a simultaneous prolongation of the period of socialization. This has led to the development of social abilities and skills, especially language, as well as neoteny. Disorders of neural crest cell development and migration lead to many different conditions such as Waardenburg syndrome, Hirschsprung disease, fetal alcohol syndrome, DiGeorge and Treacher-Collins syndrome, for which the mechanisms are already relatively well-known. However, for others, such as Williams-Beuren syndrome and schizophrenia that have the characteristics of hyperdomestication, and autism spectrum disorders, and 7dupASD syndrome that have the characteristics of hypodomestication, much less is known. Thus, deciphering the biological determinants of disordered self-domestication has great potential for elucidating the normal and disturbed ontogenesis of humans, as well as for the understanding of evolution of mammals in general.

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Section: Evolutionary Importance Of Emotionsmentioning

confidence: 99%

Molecules, Mechanisms, and Disorders of Self-Domestication: Keys for Understanding Emotional and Social Communication from an Evolutionary Perspective

et al. 2020

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“…DPCD is a novel gene in primary ciliary dyskinesia and severe cases can induce pulmonary embolism [41]. ZNF292 (rs9362415) acts as a transcription factor and plays an important role in DNA recognition and apoptosis regulation [42]. However, little is known about the role of DNA related functions in VTE.…”

Section: Discussionmentioning

confidence: 99%

Integrated Transcriptome-wide Profiling and Protein Structure Analysis of Pathogenic Genes in Venous Thromboembolism

Ding

Zhang²,

Cao³

2021

Preprint

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BackgroundGenetic factors are considered to determine the balance of the coagulation and anticoagulation processes, yet the genetic variants related to venous thromboembolism (VTE) remain unclear. This study aimed to investigate the potential molecular mechanisms and pathogenic mutations associated with VTE by determining VTE-related differentially expressed genes (DEGs) by transcriptome-wide profiling and assaying protein structure in VTE.MethodsTwo gene expression datasets, GSE48000 and GSE19151, were accessed from the Gene Expression Omnibus (GEO) database to obtain gene expression data associated with VTE. We identified the DEGs between VTE patients and healthy people using R and performed functional enrichment analysis, including Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis. Then, whole-exome sequencing (WES) was performed for 25 VTE patients and 17 normal cases, and the structural locations of pathogenic missense mutations were identified using pyMOL. Finally, DGIdb database was used to select candidate drugs for the treatment of VTE.ResultsA total of 232 DEGs were identified from the GEO database. The significant function of these DEGs was mostly involved in RNA catabolic process and ribosome pathway. Notably, the results of WES for DEGs and protein structure analysis showed that Histamine N-Methyltransferase (HNMT) (chr2: 138759649 C>T, rs11558538) may be a main predisposing factor for VTE. In addition, Amodiaquine, Harmaline, Aspirin, Metoprine, Dabigatran, and Diphenhydramine were screened for VTE therapy.ConclusionThe results showed that HNMT (chr2: 138759649 C>T, rs11558538) may be potential target for the diagnosis and treatment of VTE.

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“…Mirzaa et al identified 23 variants of ZNF292 (zinc finger protein 292), which resulted from alternative splicing of the most terminal exon 8. These variants in ZNF292 were associated with neurodevelopmental disorders with or without ASD [170]. Deletion of 6q14.3 in ZNF292 also resulted in ASD symptoms, such as learning and intellectual disabilities and behavioral problems [183].…”

Section: Neurodevelopmental Disorders and Asd By Cnvmentioning

confidence: 99%

Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder

Yoon

Choi

Lee

et al. 2020

JCM

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Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterized by difficulties in social interaction, language development delays, repeated body movements, and markedly deteriorated activities and interests. Environmental factors, such as viral infection, parental age, and zinc deficiency, can be plausible contributors to ASD susceptibility. As ASD is highly heritable, genetic risk factors involved in neurodevelopment, neural communication, and social interaction provide important clues in explaining the etiology of ASD. Accumulated evidence also shows an important role of epigenetic factors, such as DNA methylation, histone modification, and noncoding RNA, in ASD etiology. In this review, we compiled the research published to date and described the genetic and epigenetic epidemiology together with environmental risk factors underlying the etiology of the different phenotypes of ASD.

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Cited by 30 publications

References 26 publications

Molecules, Mechanisms, and Disorders of Self-Domestication: Keys for Understanding Emotional and Social Communication from an Evolutionary Perspective

Molecules, Mechanisms, and Disorders of Self-Domestication: Keys for Understanding Emotional and Social Communication from an Evolutionary Perspective

Integrated Transcriptome-wide Profiling and Protein Structure Analysis of Pathogenic Genes in Venous Thromboembolism

Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder

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