X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family Frédéric Laumonnier, Frédérique.

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X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family Frédéric Laumonnier, Frédérique Bonnet-Brilhault, Marie Gomot, Romuald Blanc, Albert David, Marie-Pierre Moizard, Martine Raynaud, Nathalie Ronce, Eric Lemonnier, Patrick Calvas, Béatrice Laudier, Jamel Chelly, Jean-Pierre Fryns, Hans-Hilger Ropers, Ben C.J. Hamel, Christian Andres, Catherine Barthélémy, Claude Moraine, Sylvain Briault The American Journal of Human Genetics Volume 74, Issue 3, Pages 552-557 (March 2004) DOI: 10.1086/382137 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of family T118. The diagram shows the 13 males who were identified as having nonspecific MR (blackened squares), nonspecific MR with autism (diagonally striped squares), or pervasive developmental disorder (gray square). For eight subjects, diagnoses were made by direct examination or from medical records, and the five other males were institutionalized. A minus sign (−) above a symbol indicates that a blood sample was obtained for analysis. The American Journal of Human Genetics 2004 74, 552-557DOI: (10.1086/382137) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 2 Identification of the NLGN4 mutation in family T118. A, Schematic representation of the organization of the NLGN4 gene and representative NLGN4 sequence of normal, affected, and heterozygous subjects from family T118. PCR products of each coding exon (from 100 ng of DNA) were amplified (primers and PCR conditions available on request), purified through Sephadex G-50 columns, and analyzed by agarose-gel electrophoresis. The products were then sequenced using the ABI PRISM BigDye Terminator Sequencing Kit (PE Applied Biosystems) on an ABI PRISM 377 automated sequencer. The arrows mark the position of the NLGN4 mutation (cDNA nucleotide 1253). B, Sequence alignments between the normal and the predicted mutated NLGN4 proteins. The position of the mutation and the consequence on the amino acid sequence are indicated in red. C, Schematic representation of the NLGN4 protein with the predicted constitutive domains by homology with the other neuroligins. The region of dimerization is positioned at the base of the AchE domain and would be absent in the truncated NLGN4. The American Journal of Human Genetics 2004 74, 552-557DOI: (10.1086/382137) Copyright © 2004 The American Society of Human Genetics Terms and Conditions