A genome-wide DNA methylation signature for SETD1B-related syndrome.
Clin Epigenetics
; 11(1): 156, 2019 11 04.
Article
en En
| MEDLINE
| ID: mdl-31685013
ABSTRACT
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 SETD1B gene which may be used as an epigenetic marker supporting the diagnosis of syndromic SETD1B-related diseases. We demonstrate the clinical utility of this unique epi-signature by reclassifying previously identified SETD1B VUS (variant of uncertain significance) in two patients.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ansiedad
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N-Metiltransferasa de Histona-Lisina
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Metilación de ADN
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Epilepsia
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Trastorno del Espectro Autista
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Mutación con Pérdida de Función
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Discapacidad Intelectual
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
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Newborn
Idioma:
En
Revista:
Clin Epigenetics
Año:
2019
Tipo del documento:
Article
País de afiliación:
Países Bajos