X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

By F. Laumonnier, F. Bonnet-Brilhault, M. Gomot, R. Blanc, A. David, M. Moizard, M. Raynaud, N. Ronce, E. Lemonnier, P. Calvas and 9 more. American Journal of Human Genetics, 2004

771 citations recorded by the source corpus.

Subfields: Cognitive Neuroscience, Genetics

View Paper: https://www.semanticscholar.org/paper/90c4de0422155397ba0d3655188c58c61b100d9d

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Citations in the corpus

Neuroligins determine synapse maturation and function. (2006, background): “Indeed, loss-of-function mutations in the human NL genes NLGN3 and NLGN4 cause rare monogenic heritable forms of autism (Chih et al., 2004; Comoletti et al., 2004; Jamain et al., 2003; Laumonnier et al., 2004).”
Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. (2011, background): “Subsequently, a truncating mutation in NLGN4X was identified in a multi‐generational pedigree with 13 affected males having either non‐syndromic ID (10 individuals), ID with ASD (2 individuals) or ASD without ID (1 individual) (Laumonnier et al., 2004).”
Activity-dependent validation of excitatory versus inhibitory synapses by neuroligin-1 versus neuroligin-2. (2007, positive): “Mutations in NL genes are found in patients with familial autismspectrum disorders (Jamain et al., 2003; Laumonnier et al., 2004; Yan et al., 2005; Zoghbi, 2003), including a point mutation in the neuroligin-3 (NL3) gene (the Arg451Cys substitution) that causes at least partial retention of NL3 in t”
Mapping autism risk loci using genetic linkage and chromosomal rearrangements (2007, background): “As samples were submitted in 96-well plate formats and arrays were processed in the same manner, the ‘batch’ analysis contained plate-speciﬁc noise, apparently leading to many false positive CNV calls.”
A synaptic trek to autism. (2009, background): “The synaptic hypothesis was confirmed by the identification of mutations affecting the postsynaptic cell adhesion molecules Neuroligins (NLGN) in individuals with ASD [15 ,16].”
Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins. (2004, background): “However, linkage of mutations in the X-linked genes encoding neuroligins-3 and -4 to autism and mental retardation (Jamain et al., 2003; Laumonnier et al., 2004) reveals some selectivity in function of neuroligin isoforms for human brain development and cognition.”
Modelling learning and memory in Drosophila to understand Intellectual Disabilities. (2020, positive): “Furthermore, CNVs for several neuroligin genes have been reported in ASDs and SCZ cohorts (Laumonnier et al., 2004; Blasi et al., 2006; Glessner et al., 2009; Sun et al., 2011a; Parente et al., 2017).”
Autism spectrum disorders: developmental disconnection syndromes (2007, background): “However, particular mutations in neuroligin genes can cause different phenotypes, including autism and mental retardation without autism, within the same family [63].”