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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

    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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  2. 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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  3. 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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  4. 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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  5. 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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