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Literature Review: Overlapping genetic association in developmental language disorder and autism; Grey matter in high functioning autism and Asperger's syndrome; Brain activation in self‐other face discrimination

Literature Review: Overlapping genetic association in developmental language disorder and autism;... ▪ A Functional Genetic Link Between Distinct Developmental Language Disorders [Vernes et al., ] The authors followed up a previous finding of rare variants in the FOXP2 transcription factor gene causing monogenic speech and language deficits. Given that FOXP2 variants contributed rarely to developmental language disorder, the investigators sought to study the targets of this transcription factor. Transcription factors contribute to turning other genes on or off by binding to DNA of the other genes. A previous study had performed an unbiased genome‐wide experiment to identify targets of FOXP2. The authors chose to follow one of the targets, the contactin‐binding protein 2 gene (CNTNAP2) because it was downregulated by FOXP2 in a part of the developing human cortex closely related to language function. The set of studies used to identify targets of FOXP2 and to validate the effect of FOXP2 on CNTNAP2 were elegant and worth detailed reading of this article and supporting articles. In addition, the methods to test association of genetic variants in CNTNAP2 to developmental language disorder are outstanding for studying how to perform such analyses. The investigators had set the stage for this study by years of effort in collection of a set of http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Autism Research Wiley

Literature Review: Overlapping genetic association in developmental language disorder and autism; Grey matter in high functioning autism and Asperger's syndrome; Brain activation in self‐other face discrimination

Cook, Edwin H.
Autism Research , Volume 1 (6) – Dec 1, 2008
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References (4)

Publisher
Wiley
Copyright
Copyright © 2008, International Society for Autism Research, Wiley Periodicals, Inc.
ISSN
1939-3792
eISSN
1939-3806
DOI
10.1002/aur.52
Publisher site
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Abstract

▪ A Functional Genetic Link Between Distinct Developmental Language Disorders [Vernes et al., ] The authors followed up a previous finding of rare variants in the FOXP2 transcription factor gene causing monogenic speech and language deficits. Given that FOXP2 variants contributed rarely to developmental language disorder, the investigators sought to study the targets of this transcription factor. Transcription factors contribute to turning other genes on or off by binding to DNA of the other genes. A previous study had performed an unbiased genome‐wide experiment to identify targets of FOXP2. The authors chose to follow one of the targets, the contactin‐binding protein 2 gene (CNTNAP2) because it was downregulated by FOXP2 in a part of the developing human cortex closely related to language function. The set of studies used to identify targets of FOXP2 and to validate the effect of FOXP2 on CNTNAP2 were elegant and worth detailed reading of this article and supporting articles. In addition, the methods to test association of genetic variants in CNTNAP2 to developmental language disorder are outstanding for studying how to perform such analyses. The investigators had set the stage for this study by years of effort in collection of a set of

Journal

Autism Research – Wiley

Published: Dec 1, 2008

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