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Emerging rare genetic and genomic syndromes in autism and developmental delay

Edited by: Professor Joseph Buxbaum (Icahn School of Medicine at Mount Sinai) and Dr Catalina Betancur (Université Pierre et Marie Curie)

This is a thematic series published in Molecular Autism.

New Content ItemRare genetic and genomic syndromes have provided insights into the molecular, cellular and circuit changes that underlie autism and associated developmental delay syndromes. For example, both Fragile X and Rett syndrome have elucidated atypical biology associated with autism and have led to novel neurobiologically-based clinical trials.

With the existence of large, well-characterized sample sets and the explosion of high-throughput methods in genetics there are numerous new genetic and genomic disorders that are being identified in autism. Articles in this series have a focus on preclinical and clinical empirical studies of these emerging rare disorders.

  1. Content type: Research

    Neurofibromatosis 1 (NF1) is a monogenic model for syndromic autism. Statins rescue the social and cognitive phenotype in animal knockout models, but translational trials with subjects > 8 years using cognitio...

    Authors: Stavros Stivaros, Shruti Garg, Maria Tziraki, Ying Cai, Owen Thomas, Joseph Mellor, Andrew A. Morris, Carly Jim, Karolina Szumanska-Ryt, Laura M Parkes, Hamied A. Haroon, Daniela Montaldi, Nicholas Webb, John Keane, Francisco X. Castellanos, Alcino J. Silva…

    Citation: Molecular Autism 2018 9:12

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  2. Content type: Research

    The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level.

    Authors: Nora Urraca, Kevin Hope, A. Kaitlyn Victor, T. Grant Belgard, Rawaha Memon, Sarita Goorha, Colleen Valdez, Quynh T. Tran, Silvia Sanchez, Juanma Ramirez, Martin Donaldson, Dave Bridges and Lawrence T. Reiter

    Citation: Molecular Autism 2018 9:6

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  3. Content type: Research

    Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic d...

    Authors: Anneke de Boer, Karlijn Vermeulen, Jos I. M. Egger, Joost G. E. Janzing, Nicole de Leeuw, Hermine E. Veenstra-Knol, Nicolette S. den Hollander, Hans van Bokhoven, Wouter Staal and Tjitske Kleefstra

    Citation: Molecular Autism 2018 9:5

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  4. Content type: Research

    Autism spectrum disorder and epilepsy often co-occur; however, the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures is a topi...

    Authors: Kristin A. Bakke, Patricia Howlin, Lars Retterstøl, Øivind J. Kanavin, Arvid Heiberg and Terje Nærland

    Citation: Molecular Autism 2018 9:2

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  5. Content type: Research

    Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Alt...

    Authors: Kit San Yeung, Winnie Wan Yee Tso, Janice Jing Kun Ip, Christopher Chun Yu Mak, Gordon Ka Chun Leung, Mandy Ho Yin Tsang, Dingge Ying, Steven Lim Cho Pei, So Lun Lee, Wanling Yang and Brian Hon-Yin Chung

    Citation: Molecular Autism 2017 8:66

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  6. Content type: Research

    Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Comple...

    Authors: Anna May Kolesnik, Emily Jane Harrison Jones, Shruti Garg, Jonathan Green, Tony Charman and Mark Henry Johnson

    Citation: Molecular Autism 2017 8:62

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  7. Content type: Research

    Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small...

    Authors: Caitlin C. Clements, Tara L. Wenger, Alisa R. Zoltowski, Jennifer R. Bertollo, Judith S. Miller, Ashley B. de Marchena, Lauren M. Mitteer, John C. Carey, Benjamin E. Yerys, Elaine H. Zackai, Beverly S. Emanuel, Donna M. McDonald-McGinn and Robert T. Schultz

    Citation: Molecular Autism 2017 8:58

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  8. Content type: Research

    Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying FOXP1 mutations and deletions have described t...

    Authors: Paige M. Siper, Silvia De Rubeis, Maria del Pilar Trelles, Allison Durkin, Daniele Di Marino, François Muratet, Yitzchak Frank, Reymundo Lozano, Evan E. Eichler, Morgan Kelly, Jennifer Beighley, Jennifer Gerdts, Arianne S. Wallace, Heather C. Mefford, Raphael A. Bernier, Alexander Kolevzon…

    Citation: Molecular Autism 2017 8:57

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  9. Content type: Research

    DYRK1A is a gene recurrently disrupted in 0.1–0.5% of the ASD population. A growing number of case reports with DYRK1A haploinsufficiency exhibit common phenotypic features including m...

    Authors: Rachel K. Earl, Tychele N. Turner, Heather C. Mefford, Caitlin M. Hudac, Jennifer Gerdts, Evan E. Eichler and Raphael A. Bernier

    Citation: Molecular Autism 2017 8:54

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  10. Content type: Research

    DYRK1A maps to the Down syndrome critical region at 21q22. Mutations in this kinase-encoding gene have been reported to cause microcephaly associated with either intellectual disabilit...

    Authors: Oc-Hee Kim, Hyun-Ju Cho, Enna Han, Ted Inpyo Hong, Krishan Ariyasiri, Jung-Hwa Choi, Kyu-Seok Hwang, Yun-Mi Jeong, Se-Yeol Yang, Kweon Yu, Doo-Sang Park, Hyun-Woo Oh, Erica E. Davis, Charles E. Schwartz, Jeong-Soo Lee, Hyung-Goo Kim…

    Citation: Molecular Autism 2017 8:50

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  11. Content type: Research

    Autism spectrum disorder (ASD) is a clinically and biologically heterogeneous condition characterized by social, repetitive, and sensory behavioral abnormalities. No treatments are approved for the core diagno...

    Authors: Sameer C. Dhamne, Jill L. Silverman, Chloe E. Super, Stephen H. T. Lammers, Mustafa Q. Hameed, Meera E. Modi, Nycole A. Copping, Michael C. Pride, Daniel G. Smith, Alexander Rotenberg, Jacqueline N. Crawley and Mustafa Sahin

    Citation: Molecular Autism 2017 8:26

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