Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Author:

Beunders Gea,Voorhoeve Els,Golzio Christelle,Pardo Luba M.,Rosenfeld Jill A.,Talkowski Michael E.,Simonic Ingrid,Lionel Anath C.,Vergult Sarah,Pyatt Robert E.,van de Kamp Jiddeke,Nieuwint Aggie,Weiss Marjan M.,Rizzu Patrizia,Verwer Lucilla E.N.I.,van Spaendonk Rosalina M.L.,Shen Yiping,Wu Bai-lin,Yu Tingting,Yu Yongguo,Chiang Colby,Gusella James F.,Lindgren Amelia M.,Morton Cynthia C.,van Binsbergen Ellen,Bulk Saskia,van Rossem Els,Vanakker Olivier,Armstrong Ruth,Park Soo-Mi,Greenhalgh Lynn,Maye Una,Neill Nicholas J.,Abbott Kristin M.,Sell Susan,Ladda Roger,Farber Darren M.,Bader Patricia I.,Cushing Tom,Drautz Joanne M.,Konczal Laura,Nash Patricia,de Los Reyes Emily,Carter Melissa T.,Hopkins Elizabeth,Marshall Christian R.,Osborne Lucy R.,Gripp Karen W.,Thrush Devon Lamb,Hashimoto Sayaka,Gastier-Foster Julie M.,Astbury Caroline,Ylstra Bauke,Meijers-Heijboer Hanne,Posthuma Danielle,Menten Björn,Mortier Geert,Scherer Stephen W.,Eichler Evan E.,Girirajan Santhosh,Katsanis Nicholas,Groffen Alexander J.,Sistermans Erik A.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference24 articles.

1. Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins;Sultana;Genomics,2002

2. A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism;Huang;Am. J. Med. Genet. A.,2010

3. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation;Kalscheuer;Hum. Genet.,2007

4. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders;Bakkaloglu;Am. J. Hum. Genet.,2008

5. Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders;Nagamani;Eur. J. Hum. Genet.,2012

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