Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.
Am J Med Genet B Neuropsychiatr Genet
; 153B(5): 983-93, 2010 Jul.
Article
in En
| MEDLINE
| ID: mdl-20162629
ABSTRACT
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 approximately 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 approximately 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 approximately 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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Gene Rearrangement
/
Cell Adhesion Molecules, Neuronal
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Developmental Disabilities
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Child Development Disorders, Pervasive
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Language Development Disorders
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Nerve Tissue Proteins
Type of study:
Prognostic_studies
Limits:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
/
Pregnancy
Language:
En
Journal:
Am J Med Genet B Neuropsychiatr Genet
Journal subject:
GENETICA MEDICA
/
NEUROLOGIA
/
PSIQUIATRIA
Year:
2010
Type:
Article
Affiliation country:
United States