ArticleAmerican journal of human genetics2016
Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.Nature genetics · 2022Pooled it
- Contribution of Copy Number Variants and Cumulative Genetic Load to Autism Spectrum Disorders: Integrative Insights from Chromosomal Microarray Analysis.International journal of molecular sciences · 2026Article
- Review
- Review
- The inactive X chromosome as a female protector in autism and beyond.Nature genetics · 2026Review
- Sex-dependent prediction of autism.Frontiers in genetics · 2026Article
- The inactive X chromosome as a female protector in autism and beyond.Research square · 2025Article
- Review
- Downstream transcription promotes human recurrent CNV associated AT-rich sequence mediated genome rearrangements in yeast.iScience · 2024Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Importance of copy number variants in childhood apraxia of speech and other speech sound disorders.Communications biology · 2024Article
- Discovering the gene-brain-behavior link in autism via generative machine learning.Science advances · 2024Article
- Detection and characterization of copy-number variants from exome sequencing in the DDD study.Genetics in medicine open · 2024Article
- Rare variants and the oligogenic architecture of autism.Trends in genetics : TIG · 2022Review
- Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk.Journal of neurodevelopmental disorders · 2021Article
- Double-strand breaks induce short-scale DNA replication and damage amplification in the fully grown mouse oocytes.Genetics · 2021Article
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.American journal of human genetics · 2021Article
- Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents.European journal of human genetics : EJHG · 2021Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Recurrent deletions and duplications at chromosomal region 16p11.2 are a major genetic contributor to autism but also associate with a wider range of pediatric diagnoses, including intellectual disability, coordination disorder, and language disorder. In order to investigate the potential genetic basis for phenotype variability, we assessed the parent of origin of the 16p11.2 copy-number variant (CNV) and the presence of additional CNVs in 126 families for which detailed phenotype data were available. Among de novo cases, we found a strong maternal bias for the origin of deletions (59/66, 89.4% of cases, p = 2.38 × 10(-11)), the strongest such effect so far observed for a CNV associated with a microdeletion syndrome. In contrast to de novo events, we observed no transmission bias for inherited 16p11.2 CNVs, consistent with a female meiotic hotspot of unequal crossover driving this maternal bias. We analyzed this 16p11.2 CNV cohort for the presence of secondary CNVs and found a significant maternal transmission bias for secondary deletions (32 maternal versus 14 paternal, p = 1.14 × 10(-2)). Of the secondary deletions that disrupted a gene, 82% were either maternally inherited or de novo (p = 4.3 × 10(-3)). Nine probands carry secondary CNVs that disrupt genes associated with autism and/or intellectual disability risk variants. Our findings demonstrate a strong bias toward maternal origin of 16p11.2 de novo deletions as well as a maternal transmission bias for secondary deletions that contribute to the clinical outcome on a background sensitized by the 16p11.2 CNV.
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