Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

Nat Genet 2003 May;34(1):27-9

Laboratoire de Génétique Humaine et Fonctions Cognitives, Université Paris 7, Institut National de la Santé et la Recherche Médicale E0021, 75015 Paris, France.

Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng1136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1925054PMC
May 2003
89 Reads

Publication Analysis

Top Keywords

genes encoding
8
nlgn3 nlgn4
8
neuroligins nlgn3
8
x-linked genes
8
encoding neuroligins
8
mutations x-linked
8
autism-spectrum disorders
4
disorders mutations
4
mutations affect
4
nlgn4 siblings
4
etiology autism
4
report mutations
4
affect cell-adhesion
4
siblings autism-spectrum
4
localized synapse
4
synaptogenesis predispose
4
predispose autism
4
defect synaptogenesis
4
synapse defect
4
molecules localized
4

References

(Supplied by CrossRef)

C Gillberg et al.
Br. J. Psychiatry 1998

SE Folstein et al.
Nat. Rev. Genet. 2001

C Gillberg et al.
J. Autism Dev. Disord 1998

NS Thomas et al.
Hum. Genet. 1999

Y Shao et al.
Am. J. Med. Genet. 2002

M Auranen et al.
Am. J. Hum. Genet. 2002

MF Bolliger et al.
Biochem. J. 2001

RA Philibert et al.
Gene 2000

K Ichtchenko et al.
J. Biol. Chem. 1996

JY Song et al.
Proc. Natl. Acad. Sci. USA 1999

Similar Publications