Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level.

doi:10.1016/j.biopsych.2009.05.008

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Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level.

Biological psychiatry - 15 Nov 2009

Daoud Hussein, Bonnet-Brilhault Frédérique, Védrine Sylviane, Demattéi Marie-Véronique, Vourc'h Patrick, Bayou Nadia, Andres Christian R, Barthélémy Catherine, Laumonnier Frédéric, Briault Sylvain

Abstract excerpt

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....

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Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level.

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