Analysis Of Four Neuroligin Genes As Candidates For Autism
Tero Ylisaukko-oja (1,2), Karola Rehnström (1,2), Mari Auranen (1,2), Raija Vanhala (3), Reija Alen (4), Elli Kempas (1,2), Pekka Ellonen (1), Joni A Turunen (1), Ismo Makkonen (5), Raili Riikonen (5), Taina Nieminen-von Wendt (3), Lennart von Wendt (3), Leena Peltonen (1,2) and Irma Järvelä (2,6)
(1) Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
(2) Department of Medical Genetics, University of Helsinki, Helsinki, Finland
(3) Unit of Child Neurology, Hospital for Children and Adolescents, Helsinki, Finland
(4) Department of Child Neurology, Central Hospital of Central Finland, Jyväskylä, Finland
(5) Department of Child Neurology, Children's Hospital, University of Kuopio, Kuopio, Finland
(6) Laboratory of Molecular Genetics, Helsinki University Central Hospital, Helsinki, Finland
Neuroligins are cell-adhesion molecules located at the postsynaptic side of the synapse. Neuroligins interact with neurexins and this interaction is involved in the formation of functional synapses. Mutations in two X-linked neuroligin genes, NLGN3 and NLGN4, have recently been implicated in pathogenesis of autism. Mutation analysis of 30 probands selected from families producing linkage evidence for Xq13 and/or 3q26 loci revealed several polymorphisms, but none of these seemed to be functional (European Journal of Human Genetics, Vol. 13, pp. 1285–1292). The authors conclude that neuroligin mutations most probably represent rare causes of autism and that it is unlikely that the allelic variants in these genes would be major risk factors for autism.
T Ylisaukko-oja, National Public Health Institute, Department of Molecular Medicine, Biomedicum, PO Box 104, 00251 Helsinki, Finland.
Abstract available online.
(C) European Journal Of Human Genetics.
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