論文

査読有り
2012年1月

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

AMERICAN JOURNAL OF HUMAN GENETICS
  • Andrea K. Vaags
  • Anath C. Lionel
  • Daisuke Sato
  • McKinsey Goodenberger
  • Quinn P. Stein
  • Sarah Curran
  • Caroline Ogilvie
  • Joo Wook Ahn
  • Irene Drmic
  • Lili Senman
  • Christina Chrysler
  • Ann Thompson
  • Carolyn Russell
  • Aparna Prasad
  • Susan Walker
  • Dalila Pinto
  • Christian R. Marshall
  • Dimitri J. Stavropoulos
  • Lonnie Zwaigenbaum
  • Bridget A. Fernandez
  • Eric Fombonne
  • Patrick F. Bolton
  • David A. Collier
  • Jennelle C. Hodge
  • Wendy Roberts
  • Peter Szatmari
  • Stephen W. Scherer
  • 全て表示

90
1
開始ページ
133
終了ページ
141
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1016/j.ajhg.2011.11.025
出版者・発行元
CELL PRESS

The three members of the human neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and neurexin 3 (NRXN3), encode neuronal adhesion proteins that have important roles in synapse development and function. In autism spectrum disorder (ASD), as well as in other neurodevelopmental conditions, rare exonic copy-number variants and/or point mutations have been identified in the NRXN1 and NRXN2 loci. We present clinical characterization of four index cases who have been diagnosed with ASD and who possess rare inherited or de novo microdeletions at 14q24.3-31.1, a region that overlaps exons of the alpha and/or beta isoforms of NRXN3. NRXN3 deletions were found in one father with subclinical autism and in a carrier mother and father without formal ASD diagnoses, indicating issues of penetrance and expressivity at this locus. Notwithstanding these clinical complexities, this report on ASD-affected individuals who harbor NRXN3 exonic deletions advances the understanding of the genetic etiology of autism, further enabling molecular diagnoses.

リンク情報
DOI
https://doi.org/10.1016/j.ajhg.2011.11.025
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/22209245
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000299409100014&DestApp=WOS_CPL
ID情報
  • DOI : 10.1016/j.ajhg.2011.11.025
  • ISSN : 0002-9297
  • PubMed ID : 22209245
  • Web of Science ID : WOS:000299409100014

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