NLGN4X, neuroligin 4 X-linked, 57502

N. diseases: 45; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE Human neurons carrying the syndromic autism mutation NLGN4-R704C also formed more excitatory synapses but with increased functional synaptic transmission due to a postsynaptic mechanism, while genetic loss of NLGN4 did not significantly affect synapses in the human neurons analyzed. 31257103 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE Importantly, NLGN-3 and NLGN-4 mutations are strongly implicated as candidates underlying the development of neuropsychiatric disorders with social disturbances such as autism, but the role of NLGN-2 in neuropsychiatric disease states is unclear. 29339486 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 Biomarker disease BEFREE In human patients, loss-of-function mutations of the postsynaptic cell-adhesion molecule neuroligin-4 were repeatedly identified as monogenetic causes of autism. 29724786 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE In humans, mutations in NLGN3 and NLGN4 are linked to autism and schizophrenia; NLGN2 missense variants are implicated in schizophrenia. 27865048 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE We focused on a set of genes, including the autism susceptibility gene Neuroligin 4 (Nlgn4), that exhibit decreased expression in ATRX-null cells to investigate the mechanisms used by ATRX to promote gene transcription. 25452430 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE By case-control analysis, we identified the common SNPs (rs3747333 and rs3747334) in the NLGN4X gene significantly associated with risk for autism [p = 5.09E-005; OR 4.685 (95% CI 2.073-10.592)]. 24570023 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism. 23851596 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE Mutations in neurexin 1 (NRXN1) as well as two other members of the neuroligin family, NLGN3 and NLGN4, have been associated with autism and mutations in NLGN4 have also been associated with intellectual disability, seizures, and EEG abnormalities. 22106001 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE Here, we analysed the effect of a single amino-acid substitution (R704C) that targets a conserved arginine residue in the cytoplasmic sequence of all neuroligins, and that was associated with autism in neuroligin-4. 21642956 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE In addition, HEK293T cells expressing Neuroligin (NLGN) 3 and NLGN4, but not those containing autism-associated mutations, are able to induce presynaptic differentiation in human induced pluripotent stem cell-derived neurons. 21278334 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 Biomarker disease BEFREE Multiplex XLMR pedigrees have been reported with only one mutated patient having autism and MR: different X-located MR genes have been shown to be involved (NLGN4, MECP2, OPHN1, ZNF674 and FRAXA) which does not suggest that they could be "autism genes". 19160128 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export. 19726642 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE We identified a de novo 1 base pair (-335G>A) substitution located in the promoter region in a patient with autism and nonsyndromic profound MR. Interestingly, this variation is associated with an increased level of the NLGN4X transcript in the patient compared with male control subjects as well as his father. 19545860 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE In the preliminary study of specific exons of NLGN3 and NLGN4 genes, we identified the p.K378R substitution (c.1597 A > G) in exon 5 of the NLGN4 gene in a patient who was found to have mild autism and normal IQ at 3 years of age. 19645625 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE The absence of p.I679V in 2986 control Y chromosomes and the high similarity of NLGN4 and NLGN4Y are consistent with the hypothesis that p.I679V contributes to the etiology of autism. 18628683 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE Mutations in the X-linked NLGN4 gene are a potential cause of autistic spectrum disorders, and mutations have been reported in several patients with autism, Asperger syndrome, and mental retardation. 18231125 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE Nonsense mutations in NLGN4X have been associated with autism and/or moderate mental retardation in males. 18194880 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE Boys with XLI and large deletions encompassing STS and NLGN4 are at increased risk of developing autism and related disorders. 18413370 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE To analyze whether genetic variants in the NLGN3 and NLGN4X genes occurs in patients with autistic disorders on high functioning level, we performed a mutation screen of both genes using SSCP in 107 probands with Asperger syndrome, high-functioning autism and atypical autism. 18189281 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE To enquire on the relevance and frequency of neuroligin mutations in ASD, we performed a mutation screening of NLGN3 and NLGN4X in a sample of 124 autism probands from the International Molecular Genetic Study of Autism Consortium (IMGSAC). 16508939 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 Biomarker disease BEFREE Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism. 16648374 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease LHGDN To enquire on the relevance and frequency of neuroligin mutations in ASD, we performed a mutation screening of NLGN3 and NLGN4X in a sample of 124 autism probands from the International Molecular Genetic Study of Autism Consortium (IMGSAC). 16508939 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease BEFREE VCX-A deficiency has been shown previously to be associated with mental retardation and NLGN4 mutations lead to mental retardation in conjunction with autism. 16470742 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease LHGDN Monoallelic expression of NLGN4 was seen in this subject and in 11 of 14 informative autistic and non-autistic females using a single nucleotide polymorphism found at 3' UTR. 16648374 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 Biomarker disease BEFREE The neuroligin gene family consists of five members (NLGN1 at 3q26, NLGN2 at 17p13, NLGN3 at Xq13, NLGN4 at Xp22, and NLGN4Y at Yq11), of which NLGN1 and NLGN3 are located within the best loci observed in our previous genome-wide scan for autism in the Finnish sample. 16077734 2005