Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay
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 ∼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.
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Mutations in some of these genes such as genes encoding cadherins and neurexin-neuroligins in human, which were differentially methylated following exposure to adverse maternal environment in mice, have been associated with ASD (179-182).
“mutations in some of these genes such as genes encoding cadherins and neurexin–neuroligins in human, which were differentially methylated following exposure to adverse maternal environment in mice, have been associated with ASD (179–182).”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [182]
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- Authors
- Wiśniowiecka‐Kowalnik, B., Nesteruk, M., Peters, S. U., Xia, Z., Cooper, M. L., Savage, S., Amato, R. S., Bader, P., Browning, M. F., Haun, C. L., Duda, A. W., Cheung, S. W., & Stankiewicz, P.
- Affiliations
- Baylor College of Medicine (US)
- Eastern Maine Medical Center (US)
- Parkview Health (US)
- Massachusetts General Hospital (US)
- Corresponding author
- Stankiewicz, Paweł
- Venue
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
- Publisher
- Wiley
- Published
- 2010-06-24
- Volume
- 153B
- Issue
- 5
- Pages
- 983-993
- ISSN
- 1552-4841 (ISSN-L)
- 1552-485X
- OpenAlex
- W1997305347
- Cited by
- 82
- References
- 35
- Citations by year
- 2026: 2 · 2024: 2 · 2023: 2 · 2022: 2 · 2021: 5 · 2020: 3 · 2019: 6 · 2018: 1 · 2017: 2 · 2016: 4 · 2015: 1 · 2014: 9 · 2013: 12 · 2012: 13
- FWCI
- 7.74
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part B Neuropsychiatric Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- NRXN1, autism spectrum disorder, developmental delay, speech delay, intragenic rearrangement, deletion, tandem duplication, Asperger syndrome, anxiety, depression, premature truncation, psychiatric genetics
- MeSH terms
- Adolescent, Adult, Amino Acid Sequence, Base Sequence, Calcium-Binding Proteins, Child, Developmental Disabilities, Child Development Disorders, Pervasive, Child, Preschool, Family, Female, Humans, Infant, Infant, Newborn, Language Development Disorders, Male, Molecular Sequence Data, Nerve Tissue Proteins, Pedigree, Pregnancy, Gene Rearrangement, Cell Adhesion Molecules, Neuronal, Polymerase Chain Reaction, In Situ Hybridization, Fluorescence, Sequence Analysis, DNA, Neural Cell Adhesion Molecules, Comparative Genomic Hybridization
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