Article
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.
American journal of human genetics - 1 Mar 2004
Laumonnier Frédéric, Bonnet-Brilhault Frédérique, Gomot Marie, Blanc Romuald, David Albert, Moizard Marie-Pierre, Raynaud Martine, Ronce Nathalie, Lemonnier Eric, Calvas Patrick, Laudier Béatrice, Chelly Jamel, Fryns Jean-Pierre, Ropers Hans-Hilger, Hamel Ben C J, Andres Christian, Barthélémy Catherine, Moraine Claude, Briault Sylvain
Abstract excerpt
A large French family including members affected by nonspecific X-linked mental retardation, with or without autism or pervasive developmental disorder in affected male patients, has been found to have a 2-base-pair deletion in the Neuroligin 4 gene (NLGN4) located at Xp22.33. This mutation leads to a premature stop codon in the middle of the sequence of the normal protein and is thought to suppress the...
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