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Disease Report for: Neuroligin 1 Alzheimer's disease (AD) Autism

Gene_locushuman-NLGN1MutationT271fs_human-NLGN1
P89L_human-NLGN1
L269P_human-NLGN1
T90I_human-NLGN1
G297E_human-NLGN1
OMIM: 600568
Comment
a frameshift mutation, c.875_876insTT, in the neuroligin 1 gene (NLGN1) in a patient with AD and familial history of AD. The insertion generates a premature stop codon in the extracellular domain of NL1 (p.Thr271fs). Also Rare variant in autism. A pair of siblings affected with a non-syndromic autism
References
    Title: Functional significance of rare neuroligin 1 variants found in autism
    Nakanishi M, Nomura J, Ji X, Tamada K, Arai T, Takahashi E, Bucan M, Takumi T
    Ref: PLoS Genet, 13:e1006940, 2017 : PubMed

            

    Title: A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function
    Tristan-Clavijo E, Camacho-Garcia RJ, Robles-Lanuza E, Ruiz A, van der Zee J, Van Broeckhoven C, Hernandez I, Martinez-Mir A, Scholl FG
    Ref: Neurobiology of Aging, 36:3171, 2015 : PubMed

            


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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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