Skip to navigation Skip to content
  • Woodruff
  • Business
  • Health Sciences
  • Law
  • MARBL
  • Oxford College
  • Theology
  • Schools
    • Undergraduate

      • Emory College
      • Oxford College
      • Business School
      • School of Nursing

      Community

      • Emory College
      • Oxford College
      • Business School
      • School of Nursing
    • Graduate

      • Business School
      • Graduate School
      • School of Law
      • School of Medicine
      • School of Nursing
      • School of Public Health
      • School of Theology
  • Libraries
    • Libraries

      • Robert W. Woodruff
      • Business
      • Chemistry
      • Health Sciences
      • Law
      • MARBL
      • Music & Media
      • Oxford College
      • Theology
    • Library Tools

      • Course Reserves
      • Databases
      • Digital Scholarship (ECDS)
      • discoverE
      • eJournals
      • Electronic Dissertations
      • EmoryFindingAids
      • EUCLID
      • ILLiad
      • OpenEmory
      • Research Guides
  • Resources
    • Resources

      • Administrative Offices
      • Emory Healthcare
      • Academic Calendars
      • Bookstore
      • Campus Maps
      • Shuttles and Parking
      • Athletics: Emory Eagles
      • Arts at Emory
      • Michael C. Carlos Museum
      • Emory News Center
      • Emory Report
    • Resources

      • Emergency Contacts
      • Information Technology (IT)
      • Outlook Web Access
      • Office 365
      • Blackboard
      • OPUS
      • PeopleSoft Financials: Compass
      • Careers
      • Human Resources
      • Emory Alumni Association
  • Browse
    • Works by Author
    • Works by Journal
    • Works by Subject
    • Works by Dept
    • Faculty by Dept
  • For Authors
    • How to Submit
    • Deposit Advice
    • Author Rights
    • Publishing Your Data
    • FAQ
    • Emory Open Access Policy
    • Open Access Fund
  • About OpenEmory
    • About OpenEmory
    • About Us
    • Citing Articles
    • Contact Us
    • Privacy Policy
    • Terms of Use
 
Contact Us

Filter Results:

Author

  • Kaufmann, Walter E. (1)
  • Mitz, Andrew R. (1)
  • Philyaw, Travis J. (1)
  • Sarasua, Sara M. (1)
  • Shcheglovitov, Aleksandr (1)
  • Thurm, Audrey (1)

Subject

  • Biology, Genetics (1)
  • Health Sciences, Mental Health (1)

Journal

  • European Journal of Human Genetics (1)

Keyword

  • 3 (1)
  • activ (1)
  • autism (1)
  • biochemistri (1)
  • biolog (1)
  • biomedicin (1)
  • brain (1)
  • cerebellar (1)
  • control (1)
  • controlledtri (1)
  • delet (1)
  • disord (1)
  • express (1)
  • gene (1)
  • genet (1)
  • hered (1)
  • kinas (1)
  • life (1)
  • molecular (1)
  • protein (1)
  • proteinkinas (1)
  • scaffold (1)
  • schizophrenia (1)
  • scienc (1)
  • shank (1)
  • spectrum (1)
  • syndrom (1)
  • technolog (1)
  • trial (1)

Search Results for all work with filters:

  • 2018
  • Boccuto, Luigi
  • Hum Gen: Admin

Work 1 of 1

Sorted by relevance

Article

Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome

by Andrew R. Mitz; Travis J. Philyaw; Luigi Boccuto; Aleksandr Shcheglovitov; Sara M. Sarasua; Walter E. Kaufmann; Audrey Thurm

2018

Subjects
  • Biology, Genetics
  • Health Sciences, Mental Health
  • File Download
  • View Abstract

Abstract:Close

Chromosome 22q13.3 deletion (Phelan McDermid) syndrome (PMS) is a rare genetic neurodevelopmental disorder resulting from deletions or other genetic variants on distal 22q. Pathological variants of the SHANK3 gene have been identified, but terminal chromosomal deletions including SHANK3 are most common. Terminal deletions disrupt up to 108 protein-coding genes. The impact of these losses is highly variable and includes both significantly impairing neurodevelopmental and somatic manifestations. The current review combines two metrics, prevalence of gene loss and predicted loss pathogenicity, to identify likely contributors to phenotypic expression. These genes are grouped according to function as follows: molecular signaling at glutamate synapses, phenotypes involving neuropsychiatric disorders, involvement in multicellular organization, cerebellar development and functioning, and mitochondrial. The likely most impactful genes are reviewed to provide information for future clinical and translational investigations.
Site Statistics
  • 16,941
  • Total Works
  • 3,667,731
  • Downloads
  • 1,143,642
  • Downloads This Year
  • 6,807
  • Faculty Profiles

Copyright © 2016 Emory University - All Rights Reserved
540 Asbury Circle, Atlanta, GA 30322-2870
(404) 727-6861
Privacy Policy | Terms & Conditions

v2.2.8-dev

Contact Us Recent and Popular Items
Download now