Title: Disruption of neurexin 1 associated with autism spectrum disorder
Authors: Kim, Hyung-Goo ×
Kishikawa, Shotaro
Higgins, Anne W
Seong, Ihn-Sik
Donovan, Diana J
Shen, Yiping
Lally, Eric
Weiss, Lauren A
Najm, Juliane
Kutsche, Kerstin
Descartes, Maria
Holt, Lynn
Braddock, Stephen
Troxell, Robin
Kaplan, Lee
Volkmar, Fred
Klin, Ami
Tsatsanis, Katherine
Harris, David J
Noens, Ilse
Pauls, David L
Daly, Mark J
MacDonald, Marcy E
Morton, Cynthia C
Quade, Bradley J
Gusella, James E #
Issue Date: Jan-2008
Publisher: Cell press
Series Title: American Journal of Human Genetics vol:82 issue:1 pages:199-207
Abstract: Autism is a neurodevelopmental disorder of complex etiology in which genetic factors play a major role. We have implicated the neurexin 1 (NRXN1) gene in two independent subjects who display an autism spectrum disorder (ASD) in association with a balanced chromosomal abnormality involving 2p16.3. In the first, with karyotype 46,XX,ins(16;2)(q22.1;p16.1p16.3)pat, NRXN1 is directly disrupted within intron 5. Importantly, the father possesses the same chromosomal abnormality in the absence of ASD, indicating that the interruption of alpha-NRXN1 is not fully penetrant and must interact with other factors to produce ASD. The breakpoint in the second subject, with 46,XY,t(1;2)(q31.3;p16.3)dn, occurs similar to 750 kb 5' to NRXN1 within a 2.6 Mb genomic segment that harbors no currently annotated genes. A scan of the NRXN1 coding sequence in a cohort of ASD subjects, relative to non-ASD controls, revealed that amino acid alterations in neurexin 1 are not present at high frequency in ASD. However, a number of rare sequence variants in the coding region, including two missense changes in conserved residues of the alpha-neurexin 1 leader sequence and of an epidermal growth factor (EGF)-like domain, respectively, suggest that even subtle changes in NRXN1 might contribute to susceptibility to ASD.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Parenting and Special Education
× corresponding author
# (joint) last author

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