KEGG   VARIANT: 9378v1
Entry
9378v1                      Variant                                
Name
NRXN1 mutation
Type
Loss of function
Gene
NRXN1  neurexin-1 isoform alpha1 precursor [KO:K07377]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600565
Network
nt06544  Neuroactive ligand signaling
Disease
H00756  Pitt-Hopkins syndrome
H01649  Schizophrenia
Reference
  Authors
Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A
  Title
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
  Journal
Am J Hum Genet 85:655-66 (2009)
DOI:10.1016/j.ajhg.2009.10.004
Reference
  Authors
Gauthier J, Siddiqui TJ, Huashan P, Yokomaku D, Hamdan FF, Champagne N, Lapointe M, Spiegelman D, Noreau A, Lafreniere RG, Fathalli F, Joober R, Krebs MO, DeLisi LE, Mottron L, Fombonne E, Michaud JL, Drapeau P, Carbonetto S, Craig AM, Rouleau GA
  Title
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.
  Journal
Hum Genet 130:563-73 (2011)
DOI:10.1007/s00439-011-0975-z
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