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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
neuroscience
Autism and Nonsyndromic Mental Retardation Associated with a De Novo Mutation in the NLGN4X Gene Promoter Causing an Increased Expression Level
Biological Psychiatry, Volume 66, No. 10, Year 2009
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Description
Background: Pathogenic mutations in the X-linked Neuroligin 4 gene (NLGN4X) in autism spectrum disorders (ASDs) and/or mental retardation (MR) are rare. However, nothing is known regarding a possible altered expression level of NLGN4X that would be caused by mutations in regulatory sequences. We investigated this issue by analyzing these regions in patients with ASDs and no mutation in the NLGN4X coding sequence. Methods: We studied 96 patients who met all DSM-IV criteria for autism. The entire coding sequence and the regulatory sequences of the NLGN4X gene were analyzed by polymerase chain reaction and direct sequencing. Results: We identified a de novo 1 base pair (-335G>A) substitution located in the promoter region in a patient with autism and nonsyndromic profound MR. Interestingly, this variation is associated with an increased level of the NLGN4X transcript in the patient compared with male control subjects as well as his father. Further in vitro luciferase reporter and electrophoretic mobility shift assays confirmed, respectively, that this mutation increases gene expression and is probably caused by altered binding of transcription factors in the mutated promoter sequence. Conclusions: This result brings further insight about the phenotypic spectrum of NLGN4X mutations and suggests that the analysis of the expression level of NLGN4X might detect new cases. © 2009 Society of Biological Psychiatry.
Authors & Co-Authors
Daoud, Hussein
France, Paris
Inserm
France, Tours
Université de Tours
Bonnet-Brilhault, Frédérique
France, Paris
Inserm
France, Tours
Université de Tours
France, Tours
Centre Hospitalier Regional et Universitaire de Tours
Védrine, Sylviane Marouillat
France, Paris
Inserm
France, Tours
Université de Tours
Demattéi, Marie Véronique
France, Tours
Université de Tours
France, Paris
Cnrs Centre National de la Recherche Scientifique
Vourc'H, Patrick
France, Paris
Inserm
France, Tours
Université de Tours
France, Tours
Centre Hospitalier Regional et Universitaire de Tours
Bayou, Nadia
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Andres, C. R.
France, Paris
Inserm
France, Tours
Université de Tours
France, Tours
Centre Hospitalier Regional et Universitaire de Tours
Barthélémy, Catherine
France, Paris
Inserm
France, Tours
Université de Tours
France, Tours
Centre Hospitalier Regional et Universitaire de Tours
Laumonnier, Frédéric
France, Paris
Inserm
France, Tours
Université de Tours
Briault, Sylvain
France, Paris
Inserm
France, Tours
Université de Tours
France, Orleans
Centre Hospitalier Régional
Statistics
Citations: 62
Authors: 10
Affiliations: 6
Identifiers
Doi:
10.1016/j.biopsych.2009.05.008
ISSN:
00063223
Research Areas
Cancer
Disability
Genetics And Genomics
Health System And Policy
Participants Gender
Male