Genetics of structural and functional brain changes in autism spectrum disorder.
Journal
Translational psychiatry
ISSN: 2158-3188
Titre abrégé: Transl Psychiatry
Pays: United States
ID NLM: 101562664
Informations de publication
Date de publication:
13 07 2020
13 07 2020
Historique:
received:
20
02
2020
accepted:
09
06
2020
revised:
05
06
2020
entrez:
15
7
2020
pubmed:
15
7
2020
medline:
22
6
2021
Statut:
epublish
Résumé
Autism spectrum disorder (ASD) is a neurological and developmental disorder characterized by social impairment and restricted interactive and communicative behaviors. It may occur as an isolated disorder or in the context of other neurological, psychiatric, developmental, and genetic disorders. Due to rapid developments in genomics and imaging technologies, imaging genetics studies of ASD have evolved in the last few years. Increased risk for ASD diagnosis is found to be related to many specific single-nucleotide polymorphisms, and the study of genetic mechanisms and noninvasive imaging has opened various approaches that can help diagnose ASD at the nascent level. Identifying risk genes related to structural and functional changes in the brain of ASD patients provide a better understanding of the disease's neuropsychiatry and can help identify targets for therapeutic intervention that could be useful for the clinical management of ASD patients.
Identifiants
pubmed: 32661244
doi: 10.1038/s41398-020-00921-3
pii: 10.1038/s41398-020-00921-3
pmc: PMC7359361
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
229Références
Baio, J. et al. Prevalence of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites, United States, 2014. MMWR Surveill. Summ. 67, 1–23 (2018).
pubmed: 29701730
pmcid: 29701730
Xu, G., Strathearn, L., Liu, B. & Bao, W. Prevalence of autism spectrum disorder among US children and adolescents, 2014–2016. JAMA 319, 81–82 (2018).
pubmed: 29297068
pmcid: 5833544
Taylor, B., Jick, H. & MacLaughlin, D. Prevalence and incidence rates of autism in the UK: time trend from 2004–2010 in children aged 8 years. BMJ Open 3, e003219 (2013).
pubmed: 24131525
pmcid: 3808754
Qiu, S. et al. Prevalence of autism spectrum disorder in Asia: a systematic review and meta-analysis. Psychiatry Res. 284, 112679 (2020).
pubmed: 31735373
Al-Farsi, Y. M. et al. Brief report: prevalence of autistic spectrum disorders in the Sultanate of Oman. J. Autism Dev. Disord. 41, 821–825 (2011).
pubmed: 20809376
Al-Ansari, A. & Mahmood, M. Epidemiology of autistic disorder in Bahrain: prevalence and obstetric and familial characteristics. East. Mediterr. Health J. 19, 769–774 (2013).
pubmed: 24313037
Aljarallah, A., Alwaznah, T., Alansari, S. & Alhazmi, M. A. Study of Autism and Developmental Disorders in Saudi Children (King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia, 2007).
Alshaban, F. et al. Prevalence and correlates of autism spectrum disorder in Qatar: a national study. J. Child Psychol. Psychiatry 60, 1254–1268 (2019).
pubmed: 31069792
pmcid: 6899566
Werling, D. M. & Geschwind, D. H. Sex differences in autism spectrum disorders. Curr. Opin. Neurol. 26, 146–153 (2013).
pubmed: 4164392
pmcid: 4164392
Pisula, E. & Porębowicz-Dörsmann, A. Family functioning, parenting stress and quality of life in mothers and fathers of Polish children with high functioning autism or Asperger syndrome. PLoS One 12, e0186536 (2017).
pubmed: 29036188
pmcid: 5643111
Gaugler, T. et al. Most genetic risk for autism resides with common variation. Nat. Genet. 46, 881–885 (2014).
pubmed: 25038753
pmcid: 4137411
Hallmayer, J. et al. Genetic heritability and shared environmental factors among twin pairs with autism. Arch. Gen. Psychiatry 68, 1095–1102 (2011).
pubmed: 21727249
pmcid: 4440679
Sandin, S. et al. The familial risk of autism. JAMA 311, 1770–1777 (2014).
pubmed: 4381277
pmcid: 4381277
O’Roak, B. J. et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246–250 (2012).
pubmed: 3350576
pmcid: 3350576
De Rubeis, S. et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515, 209–215 (2014).
pubmed: 25363760
pmcid: 25363760
Weiss, L. A. et al. A genome-wide linkage and association scan reveals novel loci for autism. Nature 461, 802–808 (2009).
pubmed: 19812673
pmcid: 2772655
Fakhoury, M. Imaging genetics in autism spectrum disorders: linking genetics and brain imaging in the pursuit of the underlying neurobiological mechanisms. Prog. Neuro-Psychopharmacol. Biol. Psychiatry 80, 101–114 (2018).
Kemper, T. L. & Bauman, M. Neuropathology of infantile autism. J. Neuropathol. Exp. Neurol. 57, 645–652 (1998).
pubmed: 9690668
Courchesne, E. et al. Neuron number and size in prefrontal cortex of children with autism. JAMA 306, 2001–2010 (2011).
pubmed: 22068992
Arin, D. M., Bauman, M. L. & Kemper, T. L. The distribution of Purkinje cell loss in the cerebellum in autism. Neurology 41, 307 (1991).
Bauman, M. L. & Kemper, T. L. Neuroanatomic observations of the brain in autism: a review and future directions. Int. J. Dev. Neurosci. 23, 183–187 (2005).
pubmed: 15749244
Zikopoulos, B. & Barbas, H. Changes in prefrontal axons may disrupt the network in autism. J. Neurosci. 30, 14595–14609 (2010).
pubmed: 21048117
pmcid: 3073590
Amaral, D. G., Schumann, C. M. & Nordahl, C. W. Neuroanatomy of autism. Trends Neurosci. 31, 137–145 (2008).
Sparks, B. F. et al. Brain structural abnormalities in young children with autism spectrum disorder. Neurology 59, 184 (2002).
pubmed: 12136055
Nordahl, C. W. et al. Brain enlargement is associated with regression in preschool-age boys with autism spectrum disorders. Proc. Natl. Acad. Sci. USA 108, 20195–20200 (2011).
pubmed: 22123952
Courchesne, E. et al. Unusual brain growth patterns in early life in patients with autistic disorder. Neurology 57, 245 (2001).
pubmed: 11468308
pmcid: 11468308
Piven, J. & An, M. R. I. study of the corpus callosum in autism. Am. J. Psychiatry 154, 1051–1056 (1997).
pubmed: 9247388
Hardan, A. Y. et al. study of increased cortical thickness in autism. Am. J. Psychiatry 163, 1290–1292 (2006).
pubmed: 16816240
pmcid: 1509104
Hyde, K. L., Samson, F., Evans, A. C. & Mottron, L. Neuroanatomical differences in brain areas implicated in perceptual and other core features of autism revealed by cortical thickness analysis and voxel-based morphometry. Hum. Brain Mapp. 31, 556–566 (2010).
pubmed: 19790171
Jiao, Y. et al. Predictive models of autism spectrum disorder based on brain regional cortical thickness. NeuroImage 50, 589–599 (2010).
pubmed: 20026220
Libero, L. E., DeRamus, T. P., Deshpande, H. D. & Kana, R. K. Surface-based morphometry of the cortical architecture of autism spectrum disorders: volume, thickness, area, and gyrification. Neuropsychologia 62, 1–10 (2014).
pubmed: 25019362
Nordahl, C. W. et al. Cortical folding abnormalities in autism revealed by surface-based morphometry. J. Neurosci. 27, 11725–11735 (2007).
pubmed: 17959814
pmcid: 6673212
Chen, R., Jiao, Y. & Herskovits, E. H. Structural MRI in autism spectrum disorder. Pediatr. Res. 69, 63R–68R (2011).
pubmed: 21289538
pmcid: 3081653
Mueller, S. et al. Convergent findings of altered functional and structural brain connectivity in individuals with high functioning autism: a multimodal MRI study. PLoS One 8, e67329 (2013).
pubmed: 23825652
pmcid: 3688993
Le Bihan, D. Looking into the functional architecture of the brain with diffusion MRI. Nat. Rev. Neurosci. 4, 469–480 (2003).
pubmed: 12778119
Travers, B. G. et al. Diffusion tensor imaging in autism spectrum disorder: a review. Autism Res. 5, 289–313 (2012).
pubmed: 22786754
pmcid: 3474893
Ben Bashat, D. et al. Accelerated maturation of white matter in young children with autism: a high b value DWI study. NeuroImage 37, 40–47 (2007).
pubmed: 17566764
Sahyoun, C. P., Belliveau, J. W. & Mody, M. White matter integrity and pictorial reasoning in high-functioning children with autism. Brain Cognit. 73, 180–188 (2010).
Wolff, J. J. et al. Differences in white matter fiber tract development present from 6 to 24 months in infants with autism. Am. J. Psychiatry 169, 589–600 (2012).
pubmed: 22362397
pmcid: 3377782
Jou, R. J. et al. Diffusion tensor imaging in autism spectrum disorders: preliminary evidence of abnormal neural connectivity. Aust. N. Z. J. Psychiatry 45, 153–162 (2011).
pubmed: 21128874
Voineagu, I. et al. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 474, 380–384 (2011).
pubmed: 3607626
pmcid: 3607626
Geschwind, D. H. & State, M. W. Gene hunting in autism spectrum disorder: on the path to precision medicine. Lancet Neurol. 14, 1109–1120 (2015).
pubmed: 4694565
pmcid: 4694565
Kumar, M. et al. High resolution magnetic resonance imaging for characterization of the neuroligin-3 knock-in mouse model associated with autism spectrum disorder. PLoS One 9, e109872 (2014).
pubmed: 25299583
pmcid: 4192590
Steadman, P. E. et al. Genetic effects on cerebellar structure across mouse models of autism using a magnetic resonance imaging atlas. Autism Res. 7, 124–137 (2014).
pubmed: 24151012
Schoen, M. et al. Shank3 transgenic and prenatal zinc-deficient autism mouse models show convergent and individual alterations of brain structures in MRI. Front. Neural Circuits 13, https://doi.org/10.3389/fncir.2019.00006 (2019).
Yang, R. et al. ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity. Proc. Natl. Acad. Sci. USA 116, 15262–15271 (2019).
pubmed: 31285321
Lamar, K.-M. J. & Carvill, G. L. Chromatin remodeling proteins in epilepsy: lessons from CHD2-associated epilepsy. Front. Mol. Neurosci. 11, 208–208 (2018).
pubmed: 29962935
pmcid: 6013553
Shen, T., Ji, F., Yuan, Z. & Jiao, J. CHD2 is required for embryonic neurogenesis in the developing cerebral cortex. Stem Cells 33, 1794–1806 (2015).
pubmed: 25786798
Suls, A. et al. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am. J. Hum. Genet. 93, 967–975 (2013).
pubmed: 24207121
pmcid: 3824114
Li, J. et al. Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database. Mol. Psychiatry 21, 290–297 (2016).
pubmed: 25849321
Xu, Q. et al. Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons. Mol. Autism 9, 65 (2018).
pubmed: 30574290
pmcid: 6299922
Sugathan, A. et al. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc. Natl. Acad. Sci. USA 111, E4468–E4477 (2014).
pubmed: 25294932
Rossel, M. & Capecchi, M. R. Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development. Development 126, 5027 (1999).
pubmed: 10529420
Qureshi, A. Y. et al. Opposing brain differences in 16p11.2 deletion and duplication carriers. J. Neurosci. 34, 11199–11211 (2014).
pubmed: 25143601
pmcid: 4138332
Bernier, R. et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell 158, 263–276 (2014).
pubmed: 24998929
pmcid: 24998929
Fang, W.-Q. et al. Overproduction of upper-layer neurons in the neocortex leads to autism-like features in mice. Cell Rep. 9, 1635–1643 (2014).
pubmed: 25466248
Richter, M. et al. Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling. Mol. Psychiatry 24, 1329–1350 (2019).
pubmed: 29467497
Qiu, S., Anderson, C. T., Levitt, P. & Shepherd, G. M. G. Circuit-specific intracortical hyperconnectivity in mice with deletion of the autism-associated Met receptor tyrosine kinase. J. Neurosci. 31, 5855–5864 (2011).
pubmed: 21490227
pmcid: 3086026
Powell, E. M., Mars, W. M. & Levitt, P. Hepatocyte growth factor/scatter factor is a motogen for interneurons migrating from the ventral to dorsal telencephalon. Neuron 30, 79–89 (2001).
pubmed: 11343646
Bassett, A. S. et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J. Pediatr. 159, 332–339 (2011).
pubmed: 21570089
pmcid: 3197829
Moreno-De-Luca, A. et al. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. JAMA Psychiatry 72, 119–126 (2015).
pubmed: 25493922
Mihailov, A. et al. Morphological brain changes associated with negative symptoms in patients with 22q11.2 deletion syndrome. Schizophr. Res. 188, 52–58 (2017).
pubmed: 28139357
Schmitt, J. E. et al. Aberrant cortical morphometry in the 22q11.2 deletion syndrome. Biol. Psychiatry 78, 135–143 (2015).
pubmed: 25555483
Fombonne, E., Rogé, B., Claverie, J., Courty, S. & Frémolle, J. Microcephaly and macrocephaly in autism. J. Autism Dev. Disord. 29, 113–119 (1999).
pubmed: 10382131
Torres, M. & Giráldez, F. The development of the vertebrate inner ear. Mech. Dev. 71, 5–21 (1998).
pubmed: 9507049
Persico, A. M. in Neural Circuit Development and Function in the Brain (eds Rubenstein, John L. R. & Rakic, Pasko) 651–694 (Academic Press, Cambridge, 2013).
Muscarella, L. A. et al. HOXA1 gene variants influence head growth rates in humans. Am. J. Med. Genet. Part B: Neuropsychiatr. Genet. 144B, 388–390 (2007).
Conciatori, M. et al. Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism. Biol. Psychiatry 55, 413–419 (2004).
pubmed: 14960295
Muscarella, L. A. et al. Candidate gene study of HOXB1 in autism spectrum disorder. Mol. Autism 1, 9 (2010).
pubmed: 20678259
pmcid: 2913946
Pilarski, R. & Eng, C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J. Med. Genet. 41, 323–326 (2004).
pubmed: 15121767
pmcid: 1735782
Goffin, A., Hoefsloot, L. H., Bosgoed, E., Swillen, A. & Fryns, J.-P. PTEN mutation in a family with Cowden syndrome and autism. Am. J. Med. Genet. 105, 521–524 (2001).
pubmed: 11496368
Butler, M. G. et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J. Med. Genet. 42, 318–321 (2005).
pubmed: 15805158
pmcid: 1736032
Buxbaum, J. D. et al. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am. J. Med. Genet. B Neuropsychiatr. Genet. 144B, 484–491 (2007).
pubmed: 17427195
pmcid: 3381648
Strauss, K. et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N. Engl. J. Med. 354, 1370–1377 (2006).
pubmed: 16571880
Canali, G. et al. Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons. Hum. Mol. Genet. 27, 1941–1954 (2018).
pubmed: 29788201
de Jong, J. et al. Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder. (2019).
Tan, G. C. Y., Doke, T. F., Ashburner, J., Wood, N. W. & Frackowiak, R. S. J. Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2. NeuroImage 53, 1030–1042 (2010).
pubmed: 20176116
pmcid: 2941042
Hedrick, A. et al. Autism risk gene MET variation and cortical thickness in typically developing children and adolescents. Autism Res. 5, 434–439 (2012).
pubmed: 23097380
pmcid: 3528800
Rudie, J. D. et al. Autism-associated promoter variant in MET impacts functional and structural brain networks. Neuron 75, 904–915 (2012).
pubmed: 22958829
pmcid: 3454529
Wassink, T. H. et al. Cerebral cortical gray matter overgrowth and functional variation of the serotonin transporter gene in autism. Arch. Gen. Psychiatry 64, 709–717 (2007).
pubmed: 17548752
Inoue, H. et al. Association between the oxytocin receptor gene and amygdalar volume in healthy adults. Biol. Psychiatry 68, 1066–1072 (2010).
pubmed: 20832055
Furman, D. J., Chen, M. C. & Gotlib, I. H. Variant in oxytocin receptor gene is associated with amygdala volume. Psychoneuroendocrinology 36, 891–897 (2011).
pubmed: 21208749
pmcid: 3104107
Tost, H. et al. A common allele in the oxytocin receptor gene (OXTR) impacts prosocial temperament and human hypothalamic-limbic structure and function. Proc. Natl. Acad. Sci. USA 107, 13936–13941 (2010).
pubmed: 20647384
Saito, Y. et al. Neural correlate of autistic-like traits and a common allele in the oxytocin receptor gene. Soc. Cognit. Affect. Neurosci. 9, 1443–1450 (2014).
Damiano, C. R. et al. Association between the oxytocin receptor (OXTR) gene and mesolimbic responses to rewards. ecular. Mol. Autism 5, 7 (2014).
pubmed: 3922109
pmcid: 3922109
O’Connell, G. et al. Association of genetic variation in the promoter region of OXTR with differences in social affective neural processing. J. Behav. Brain Sci. 2, 60 (2012).
Montag, C., Sauer, C., Reuter, M. & Kirsch, P. An interaction between oxytocin and a genetic variation of the oxytocin receptor modulates amygdala activity toward direct gaze: evidence from a pharmacological imaging genetics study. Eur. Arch. Psychiatry Clin. Neurosci. 263, 169–175 (2013).
Tost, H. et al. Neurogenetic effects of OXTR rs2254298 in the extended limbic system of healthy Caucasian adults. Biol. Psychiatry 70, e37–e39 (2011).
pubmed: 21872215
Schneider-Hassloff, H. et al. Oxytocin receptor polymorphism and childhood social experiences shape adult personality, brain structure and neural correlates of mentalizing. NeuroImage 134, 671–684 (2016).
pubmed: 27109357
Marchetto, M. C. et al. Altered proliferation and networks in neural cells derived from idiopathic autistic individuals. Mol. Psychiatry 22, 820–835 (2017).
pubmed: 27378147
Olivito, G. et al. Resting-state functional connectivity changes between dentate nucleus and cortical social brain regions in autism spectrum disorders. Cerebellum 16, 283–292 (2017).
pubmed: 27250977
Joshi, G. et al. Integration and segregation of default mode network resting-state functional connectivity in transition-age males with high-functioning autism spectrum disorder: a proof-of-concept study. Brain Connect. 7, 558–573 (2017).
pubmed: 28942672
pmcid: 6435351
Baddeley, A. Working memory: looking back and looking forward. Nat. Rev. Neurosci. 4, 829–839 (2003).
pubmed: 14523382
Seghier, M. L. The angular gyrus: multiple functions and multiple subdivisions. Neuroscientist 19, 43–61 (2013).
pubmed: 22547530
pmcid: 22547530
Abrams, D. A. et al. Underconnectivity between voice-selective cortex and reward circuitry in children with autism. Proc. Natl. Acad. Sci. USA 110, 12060–12065 (2013).
pubmed: 23776244
Just, M. A., Cherkassky, V. L., Keller, T. A. & Minshew, N. J. Cortical activation and synchronization during sentence comprehension in high-functioning autism: evidence of underconnectivity. Brain 127, 1811–1821 (2004).
pubmed: 15215213
Koshino, H. et al. Functional connectivity in an fMRI working memory task in high-functioning autism. NeuroImage 24, 810–821 (2005).
pubmed: 15652316
Kleinhans, N. M. et al. Abnormal functional connectivity in autism spectrum disorders during face processing. Brain 131, 1000–1012 (2008).
pubmed: 18234695
Kana, R. K., Keller, T. A., Minshew, N. J. & Just, M. A. Inhibitory control in high-functioning autism: decreased activation and underconnectivity in inhibition networks. Biol. Psychiatry 62, 198–206 (2007).
Villalobos, M. E., Mizuno, A., Dahl, B. C., Kemmotsu, N. & Müller, R.-A. Reduced functional connectivity between V1 and inferior frontal cortex associated with visuomotor performance in autism. NeuroImage 25, 916–925 (2005).
pubmed: 15808991
pmcid: 3319340
Blakemore, S.-J. The social brain in adolescence. Nat. Rev. Neurosci. 9, 267–277 (2008).
pubmed: 18354399
Kana, R. K. & Wadsworth, H. M. “The archeologist’s career ended in ruins”: hemispheric differences in pun comprehension in autism. NeuroImage 62, 77–86 (2012).
pubmed: 22548805
Catarino, A. et al. An fMRI investigation of detection of semantic incongruities in autistic spectrum conditions. Eur. J. Neurosci. 33, 558–567 (2011).
pubmed: 21198976
Dichter, G. S. Functional magnetic resonance imaging of autism spectrum disorders. Dialog. Clin. Neurosci. 14, 319–351 (2012).
Ameis, S. H. & Szatmari, P. Imaging-genetics in autism spectrum disorder: advances, translational impact, and future directions. Front. Psychiatry 3, 46 (2012).
pubmed: 22615702
pmcid: 3351673
Noonan, S. K., Haist, F. & Müller, R.-A. Aberrant functional connectivity in autism: evidence from low-frequency BOLD signal fluctuations. Brain Res. 1262, 48–63 (2009).
pubmed: 19401185
pmcid: 2766184
Safar, K., Wong, S. M., Leung, R. C., Dunkley, B. T. & Taylor, M. J. Increased functional connectivity during emotional face processing in children with autism spectrum disorder. Front. Hum. Neurosci. 12, 408 (2018).
pubmed: 30364114
pmcid: 6191493
Martucci, L. L. et al. A multiscale analysis in CD38(-/-) mice unveils major prefrontal cortex dysfunctions. FASEB J. 33, 5823–5835 (2019).
pubmed: 30844310
pmcid: 6677574
Egashira, N. et al. Impaired social interaction and reduced anxiety-related behavior in vasopressin V1a receptor knockout mice. Behav. Brain Res. 178, 123–127 (2007).
pubmed: 17227684
Bielsky, I. F., Hu, S.-B., Szegda, K. L., Westphal, H. & Young, L. J. Profound impairment in social recognition and reduction in anxiety-like behavior in vasopressin V1a receptor knockout mice. Neuropsychopharmacology 29, 483–493 (2004).
pubmed: 14647484
Trommsdorff, M. et al. Reeler/disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2. Cell 97, 689–701 (1999).
pubmed: 10380922
Salinger, W., Ladrow, P. & Wheeler, C. Behavioral phenotype of the reeler mutant mouse: effects of reln gene dosage and social isolation. Behav. Neurosci. 117, 1257 (2004).
Domínguez-Iturza, N. et al. The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour. Nat. Commun. 10, 3454 (2019).
pubmed: 31371726
pmcid: 6672001
Liska, A. et al. Homozygous loss of autism-risk gene CNTNAP2 results in reduced local and long-range prefrontal functional connectivity. Cold Spring Harbor Labs J. 060335. https://doi.org/10.1101/060335 . (2016).
Voineskos, A. N. et al. Neurexin-1 and frontal lobe white matter: an overlapping intermediate phenotype for schizophrenia and autism spectrum disorders. PLoS One 6, e20982 (2011).
pubmed: 21687627
pmcid: 3110800
Lam, M. et al. Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality. Exp. Cell Res. 383, 111469 (2019).
pubmed: 31302032
Scott-Van Zeeland, A. A. et al. Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2. Sci. Transl. Med. 2, 56ra80 (2010).
pubmed: 21048216
pmcid: 3065863
Whalley, H. C. et al. Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals. Am. J. Med. Genet. Part B: Neuropsychiatr. Genet. 156, 941–948 (2011).
Sauer, C., Montag, C., Wörner, C., Kirsch, P. & Reuter, M. Effects of a common variant in the CD38 gene on social processing in an oxytocin challenge study: possible links to autism. Neuropsychopharmacology 37, 1474–1482 (2012).
pubmed: 22278094
pmcid: 3327852
Meyer-Lindenberg, A. et al. Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans. Mol. Psychiatry 14, 968–975 (2009).
pubmed: 18490926
Sauer, C., Montag, C., Reuter, M. & Kirsch, P. Imaging oxytocin × dopamine interactions: an epistasis effect of CD38 and COMT gene variants influences the impact of oxytocin on amygdala activation to social stimuli. Front. Neurosci. 7, 45 (2013).
pubmed: 23554586
pmcid: 3612689
Liska, A., Galbusera, A., Schwarz, A. J. & Gozzi, A. Functional connectivity hubs of the mouse brain. NeuroImage 115, 281–291 (2015).
pubmed: 25913701
de Oliveira Pereira Ribeiro, L. et al. Evidence for association between OXTR gene and ASD clinical phenotypes. J. Mol. Neurosci. 65, 213–221 (2018).
pubmed: 29858823
Boso, M. et al. Reduced plasma apelin levels in patients with autistic spectrum disorder. Arch. Med. Res. 38, 70–74 (2007).
pubmed: 17174726
Tansey, K. E. et al. Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism. Mol. Autism 2, 3 (2011).
pubmed: 21453499
pmcid: 3080300
Muma, N. A. & Hoffman, P. N. Neurofilaments are intrinsic determinants of axonal caliber. Micron 24, 677–683 (1993).
Smorodchenko, A. et al. Comparative analysis of uncoupling protein 4 distribution in various tissues under physiological conditions and during development. Biochim. Biophys. Acta—Biomembr. 1788, 2309–2319 (2009).
Zhang, M. et al. Overexpression of uncoupling protein 4 promotes proliferation and inhibits apoptosis and differentiation of preadipocytes. Life Sci. 79, 1428–1435 (2006).
pubmed: 16716360
Liu, D. et al. Mitochondrial UCP4 mediates an adaptive shift in energy metabolism and increases the resistance of neurons to metabolic and oxidative stress. NeuroMol. Med. 8, 389–413 (2006).
Bonora, E. et al. Analysis of reelin as a candidate gene for autism. Mol. Psychiatry 8, 885–892 (2003).
pubmed: 14515139
Persico, A. M. et al. Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Mol. Psychiatry 6, 150–159 (2001).
pubmed: 11317216
Fatemi, S. H. et al. Reelin signaling is impaired in autism. Biol. Psychiatry 57, 777–787 (2005).
pubmed: 15820235
Hong, S. E. et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat. Genet. 26, 93–96 (2000).
pubmed: 10973257
Huang, T.-N. & Hsueh, Y.-P. Brain-specific transcriptional regulator T-brain-1 controls brain wiring and neuronal activity in autism spectrum disorders. Front. Neurosci. 9, 406 (2015).
pubmed: 26578866
pmcid: 4630302
Huang, T.-N. et al. Haploinsufficiency of autism causative gene Tbr1 impairs olfactory discrimination and neuronal activation of the olfactory system in mice. Mol. Autism 10, 5 (2019).
pubmed: 30792833
pmcid: 6371489
Englund, C. et al. Pax6, Tbr2, and Tbr1 are expressed sequentially by radial glia, intermediate progenitor cells, and postmitotic neurons in developing neocortex. J. Neurosci. 25, 247–251 (2005).
pubmed: 15634788
pmcid: 6725189
Ecker, C. et al. Describing the brain in autism in five dimensions-magnetic resonance imaging-assisted diagnosis of autism spectrum disorder using a multiparameter classification approach. J. Neurosci. 30, 10612–10623 (2010).
pubmed: 20702694
pmcid: 6634684
Abraham, A. et al. Deriving reproducible biomarkers from multi-site resting-state data: an Autism-based example. NeuroImage 147, 736–745 (2017).
pubmed: 27865923
Hernandez, L. M., Rudie, J. D., Green, S. A., Bookheimer, S. & Dapretto, M. Neural signatures of autism spectrum disorders: insights into brain network dynamics. Neuropsychopharmacology 40, 171–189 (2015).
pubmed: 25011468
Bogdan, R. et al. Imaging genetics and genomics in psychiatry: a critical review of progress and potential. Biol. Psychiatry 82, 165–175 (2017).
pubmed: 28283186
pmcid: 5505787
Nair, A. et al. Impact of methodological variables on functional connectivity findings in autism spectrum disorders. Hum. Brain Mapp. 35. https://doi.org/10.1002/hbm.22456 (2014).
Coravos, A., Khozin, S. & Mandl, K. D. Developing and adopting safe and effective digital biomarkers to improve patient outcomes. NPJ Digit. Med. 2, 14 (2019).
pubmed: 30868107
pmcid: 6411051
Domínguez-del-Toro, E. et al. Generation of a novel functional circuit in Hoxa1 mutant mice. J. Neurosci. 21, 5637–5642 (2001).
Lazaro, M. T. et al. Reduced prefrontal synaptic connectivity and disturbed oscillatory population dynamics in the CNTNAP2 model of autism. Cell Rep. 27, 2567–2578 (2019).
pubmed: 31141683
pmcid: 6553483
Wang, C., Pan, Y.-H., Wang, Y., Blatt, G. & Yuan, X.-B. Segregated expressions of autism risk genes Cdh11 and Cdh9 in autism-relevant regions of developing cerebellum. Mol. Brain 12, 40 (2019).
pubmed: 31046797
pmcid: 6498582
Lepagnol-Bestel, A. M. et al. SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects. Mol. Psychiatry 13, 385–397 (2008).
pubmed: 18180767
Lintas, C. et al. Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression. Mol. Psychiatry 14, 705–718 (2009).
pubmed: 18317465
Nagarajan, R. P., Hogart, A. R., Gwye, Y., Martin, M. R. & LaSalle, J. M. Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation. Epigenetics 1, e1–e11 (2006).
pubmed: 17486179
pmcid: 1866172
Xing, X. et al. Hyperactive Akt-mTOR pathway as a therapeutic target for pain hypersensitivity in Cntnap2-deficient mice. Neuropharmacology 165, 107816 (2020).
pubmed: 31874168