De novo exon 1 deletion ofAUTS2gene in a patient with autism spectrum disorder and developmental delay: A case report and a brief literature review-Reference-Cited by-全球学者库

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De novo exon 1 deletion ofAUTS2gene in a patient with autism spectrum disorder and developmental delay: A case report and a brief literature review

Published:2015-04-06 Issue:6 Volume:167 Page:1381-1385
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Liu Yi¹,Zhao Dongmei²,Dong Rui¹,Yang Xiaomeng¹,Zhang Yanqing²,Tammimies Kristiina³,Uddin Mohammed³,Scherer Stephen W³⁴,Gai Zhongtao¹²

Affiliation:

1. Pediatric Research Institute; Qilu Children's Hospital of Shandong University; Ji'nan China

2. Pediatric Health Institute; Qilu Children's Hospital of Shandong University; Ji'nan China

3. The Centre for Applied Genomics; The Hospital for Sick Children; Toronto Canada

4. McLaughlin Centre and Department of Molecular Genetics; University of Toronto; Toronto Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37050/fullpdf

Reference27 articles.

1. De novo single exon deletion of AUTS2 in a patient with speech and language disorder: A review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders;Amarillo;Am J Med Genet A,2014

2. Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain;Ameur;Nat Stuct Mol Biol,2011

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

4. Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology;Bedogni;Gene Expr Patterns,2010

5. Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression;Ben-David;Hum Mol Genet,2011

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2. Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders;Frontiers in Genetics;2023-03-07

3. Structural polymorphism driven by a register shift in a CGAG-rich region found in the promoter of the neurodevelopmental regulatorAUTS2gene;Nucleic Acids Research;2023-03-02

4. Auts2 deletion involves in DG hypoplasia and social recognition deficit: The developmental and neural circuit mechanisms;Science Advances;2022-03-04

5. Autism-Related Transcription Factors Underlying the Sex-Specific Effects of Prenatal Bisphenol A Exposure on Transcriptome-Interactome Profiles in the Offspring Prefrontal Cortex;International Journal of Molecular Sciences;2021-12-08

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