ArticleGenes, brain, and behavior2015
Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features.
Article in Genes, brain, and behavior, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed.
- Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome.Journal of neurodevelopmental disorders · 2018Trial
- Discovery of KDM5D as a novel biomarker for traumatic brain injury identified through bioinformatics analysis.Frontiers in immunology · 2025Article
- Review
- A genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism risk.Nature communications · 2024Article
- Complex genomic rearrangements of the Y chromosome in a premature infant.Molecular cytogenetics · 2024Article
- Towards Biomarkers for Autism Spectrum Disorder: Contributions of Magnetoencephalography (MEG).Advances in neurobiology · 2024Review
- Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD.Nature communications · 2023Article
- Molecular genetic analysis of 1,980 cases of male infertility.Experimental and therapeutic medicine · 2023Article
- Y chromosome sequence and epigenomic reconstruction across human populations.Communications biology · 2023Article
- Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling.Journal of community genetics · 2023Review
- Sex-limited chromosomes and non-reproductive traits.BMC biology · 2022Review
- Genetic Analysis of Neuroligin 4Y Gene in Autism Population of India.Global medical genetics · 2022Article
- Effect of sex chromosome number variation on attention-deficit/hyperactivity disorder symptoms, executive function, and processing speed.Developmental medicine and child neurology · 2022Article
- Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome.Journal of neurodevelopmental disorders · 2021Article
- Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.Journal of pediatric genetics · 2020Article
- Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Article
- Article
- A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early intervention.Clinical genetics · 2020Review
- Preeclampsia Drives Molecular Networks to Shift Toward Greater Vulnerability to the Development of Autism Spectrum Disorder.Frontiers in neurology · 2020Article
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Authors and funding
5 authors.
Funding
Abstract
The male sex chromosome disorder, 47,XYY syndrome (XYY), is associated with increased risk for social-emotional difficulties, attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). We hypothesize that increased Y chromosome gene copy number in XYY leads to overexpression of Y-linked genes related to brain development and function, thereby increasing risk for these phenotypes. We measured expression in blood of two Y genes NLGN4Y and RPS4Y in 26 boys with XYY and 11 male controls and evaluated whether NLGN4Y expression correlates with anxiety, ADHD, depression and autistic behaviors (from questionnaires) in boys with XYY. The XYY cohort had increased risk of ASD behaviors on the social responsiveness scale (SRS) and increased attention deficits on the Conners' DSM-IV inattention and hyperactive scales. In contrast, there was no increase in reported symptoms of anxiety or depression by the XYY group. Peripheral expression of two Y genes in boys with XYY vs. typically developing controls was increased twofold in the XYY group. Results from the SRS total and autistic mannerisms scales, but not from the attention, anxiety or depression measures, correlated with peripheral expression of NLGN4Y in boys with XYY. Males with XYY have social phenotypes that include increased risk for autism-related behaviors and ADHD. Expression of NLGN4Y, a gene that may be involved in synaptic function, is increased in boys with XYY, and the level of expression correlates with overall social responsiveness and autism symptoms. Thus, further investigation of NLGN4Y as a plausible ASD risk gene in XYY is warranted.
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