ArticleBMC medical genetics2014
A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 56 citations in OpenAlex.
- A de Novo 2q23.1-2q23.3 duplication in a neonate with anemia, thrombocytopenia, and hypospadias: clinical and genomic characterization.Molecular cytogenetics · 2025Article
- Zebrafish Mbd5 binds to RNA m5C and regulates histone deubiquitylation and gene expression in development metabolism and behavior.Nucleic acids research · 2024Article
- A Novel Genetic Variant inInternational journal of molecular sciences · 2023Article
- DNA methylation as a potential mediator of the association between prenatal tobacco and alcohol exposure and child neurodevelopment in a South African birth cohort.Translational psychiatry · 2022Article
- Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.Neurology. Genetics · 2021Article
- Control of CNS functions by RNA-binding proteins in neurological diseases.Current pharmacology reports · 2018Article
- 1q21.1 Duplication syndrome and epilepsy: Case report and review.Neurology. Genetics · 2018Article
- Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.Human genetics · 2017Article
- Investigation of single-nucleotide variants in MBD5 associated with autism spectrum disorders and schizophrenia phenotypes.Nagoya journal of medical science · 2016Article
- Comparative genomic analysis reveals bilateral breast cancers are genetically independent.Oncotarget · 2015Article
- Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.International journal of molecular sciences · 2015Article
- Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases.PloS one · 2015Article
- An evo-devo approach to thyroid hormones in cerebral and cerebellar cortical development: etiological implications for autism.Frontiers in endocrinology · 2014Review
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11 authors at 3 institutions in 2 countries.
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Abstract
backgroundInfantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases. Rare mutations in a single gene or in copy number variants (CNVs) have been implicated in IS of children in Western countries. The objective of this study was to dissect the role of copy number variations in Chinese children with infantile spasms.
methodsWe used the Agilent Human Genome CGH microarray 180 K for genome-wide detection of CNVs. Real-time qPCR was used to validate the CNVs. We performed genomic and medical annotations for individual CNVs to determine the pathogenicity of CNVs related to IS.
resultsWe report herein the first genome-wide CNV analysis in children with IS, detecting a total of 14 CNVs in a cohort of 47 Chinese children with IS. Four CNVs (4/47 = 8.5%) (1q21.1 gain; 1q44, 2q31.1, and 17p13 loss) are considered to be pathogenic. The CNV loss at 17p13.3 contains PAFAH1B1 (LIS1), a causative gene for lissencephaly. Although the CNVs at 1q21.1, 1q44, and 2q23.1 have been previously implicated in a wide spectrum of clinical features including autism spectrum disorders (ASD) and generalized seizure, our study is the first report identifying them in individuals with a primary diagnosis of IS. The CNV loss in the 1q44 region contains HNRNPU, a strong candidate gene recently suggested in IS by the whole exome sequencing of children with IS. The CNV loss at 2q23.1 includes MBD5, a methyl-DNA binding protein that is a causative gene of ASD and a candidate gene for epileptic encephalopathy. We also report a distinct clinical presentation of IS, microcephaly, intellectual disability, and absent hallux in a case with the 2q23.1 deletion.
conclusionOur findings strongly support the role of CNVs in infantile spasms and expand the clinical spectrum associate with 2q23.1 deletion. In particular, our study implicates the HNRNPU and MBD5 genes in Chinese children with IS. Our study also supports that the molecular mechanisms of infantile spasms appear conserved among different ethnic backgrounds.
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