A genome-wide DNA methylation signature for SETD1B-related syndrome
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説明
<jats:title>Abstract</jats:title><jats:p>SETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic control of chromatin structure and gene expression. De novo microdeletions encompassing this gene as well as de novo missense mutations were previously linked to syndromic intellectual disability (ID). Here, we identify a specific hypermethylation signature associated with loss of function mutations in the<jats:italic>SETD1B</jats:italic>gene which may be used as an epigenetic marker supporting the diagnosis of syndromic<jats:italic>SETD1B</jats:italic>-related diseases. We demonstrate the clinical utility of this unique epi-signature by reclassifying previously identified<jats:italic>SETD1B</jats:italic>VUS (variant of uncertain significance) in two patients.</jats:p>
収録刊行物
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- Clinical Epigenetics
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Clinical Epigenetics 11 (1), 156-, 2019-11-04
Springer Science and Business Media LLC
関連研究データ
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キーワード
- Adult
- Genetic Markers
- Male
- Jumonji Domain-Containing Histone Demethylases
- INTELLECTUAL DISABILITY
- Adolescent
- Autism Spectrum Disorder
- Diseases
- VARIANTS
- Anxiety
- DIAGNOSIS
- Epigenesis, Genetic
- 12Q24.31
- SETD1B
- BECKWITH-WIEDEMANN SYNDROME
- Loss of Function Mutation
- Intellectual Disability
- Humans
- MICRODELETION
- Child
- Epilepsy
- Research
- F-Box Proteins
- Infant, Newborn
- Histone-Lysine N-Methyltransferase
- DNA Methylation
- Expressió gènica
- LINKING
- Child, Preschool
- Malalties
- CpG Islands
- Female
- Gene expression
詳細情報 詳細情報について
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- CRID
- 1361694371759871488
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- ISSN
- 18687083
- 18687075
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- PubMed
- 31685013
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- 資料種別
- journal article
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- データソース種別
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- Crossref
- KAKEN
- OpenAIRE