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Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay
Author(s) -
WiśniowieckaKowalnik Barbara,
Nesteruk Monika,
Peters Sarika U.,
Xia Zhilian,
Cooper M. Lance,
Savage Sarah,
Amato R. Stephen,
Bader Patricia,
Browning Marsha F.,
Haun Christa L.,
Duda Andrew Walter,
Cheung Sau Wai,
Stankiewicz Paweł
Publication year - 2010
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.31064
Subject(s) - autism , autism spectrum disorder , anxiety , psychology , cognition , speech delay , copy number variation , gene duplication , schizophrenia (object oriented programming) , tandem exon duplication , psychosis , pervasive developmental disorder , genetics , psychiatry , biology , genome , gene
NRXN1 is highly expressed in brain and has been shown recently to be associated with ASD, schizophrenia, cognitive and behavioral abnormalities, and alcohol and nicotine dependence. We present three families, in whom we identified intragenic rearrangements within NRXN1 using a clinical targeted oligonucleotide array CGH. An ∼380 kb deletion was identified in a woman with Asperger syndrome, anxiety, and depression and in all four of her children affected with autism, anxiety, developmental delay, and speech delay but not in an unaffected child. An ∼180 kb tandem duplication was found in a patient with autistic disorder and cognitive delays, and in his mother and younger brother who have speech delay. An ∼330 kb tandem duplication was identified in a patient with autistic features. As predicted by conceptual translation, all three genomic rearrangements led to the premature truncation of NRXN1 . Our data support previous observations that NRXN1 may be pathogenic in a wide variety of psychiatric diseases, including autism spectrum disorder, global developmental delay, anxiety, and depression. © 2010 Wiley‐Liss, Inc.