ArticleScientific reports2016
CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 27 citations in OpenAlex.
- Detection and characterization of copy-number variants from exome sequencing in the DDD study.Genetics in medicine open · 2024Article
- Rare copy number variants in males and females with childhood attention-deficit/hyperactivity disorder.Molecular psychiatry · 2023Article
- Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.American journal of human genetics · 2021Article
- Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine.Non-coding RNA · 2021Review
- Urine Organic Acids as Metabolic Indicators for Global Developmental Delay/Intellectual Disability in Chinese Children.Frontiers in molecular biosciences · 2021Article
- Chromosomal variants accumulate in genomes of the spontaneous aborted fetuses revealed by chromosomal microarray analysis.PloS one · 2021Article
- The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.BMC medical genomics · 2020Article
- Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.Orphanet journal of rare diseases · 2019Article
- De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.PLoS genetics · 2018Observational
- Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders.Neuroscience bulletin · 2018Article
- Paternally inherited cis-regulatory structural variants are associated with autism.Science (New York, N.Y.) · 2018Article
- CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.Human mutation · 2017Article
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12 authors at 7 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Rare copy number variations (CNVs) are a known genetic etiology in neurodevelopmental disorders (NDD). Comprehensive CNV analysis was performed in 287 Chinese children with mental retardation and/or development delay (MR/DD) and their unaffected parents. When compared with 5,866 ancestry-matched controls, 11~12% more MR/DD children carried rare and large CNVs. The increased CNV burden in MR/DD was predominantly due to de novo CNVs, the majority of which (62%) arose in the paternal germline. We observed a 2~3 fold increase of large CNV burden in the mothers of affected children. By implementing an evidence-based review approach, pathogenic structural variants were identified in 14.3% patients and 2.4% parents, respectively. Pathogenic CNVs in parents were all carried by mothers. The maternal transmission bias of deleterious CNVs was further replicated in a published dataset. Our study confirms the pathogenic role of rare CNVs in MR/DD, and provides additional evidence to evaluate the dosage sensitivity of some candidate genes. It also supports a population model of MR/DD that spontaneous mutations in males' germline are major contributor to the de novo mutational burden in offspring, with higher penetrance in male than female; unaffected carriers of causative mutations, mostly females, then contribute to the inherited mutational burden.
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