Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome

Eur J Hum Genet. 2023 Dec;31(12):1350-1354. doi: 10.1038/s41431-023-01459-w. Epub 2023 Sep 22.

Authors

Candy Kumps¹, Erika D'haenens², Jennifer Kerkhof³, Haley McConkey³, Marielle Alders³, Bekim Sadikovic³, Olivier M Vanakker²

Affiliations

¹ Center for Medical Genetics, Ghent University Hospital, Gent, Belgium. candy.kumps@ugent.be.
² Center for Medical Genetics, Ghent University Hospital, Gent, Belgium.
³ Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.

PMID: 37736838
PMCID: PMC10689817 (available on 2024-12-01)
DOI: 10.1038/s41431-023-01459-w

No abstract available

MeSH terms

Abnormalities, Multiple* / genetics
Adult
DNA (Cytosine-5-)-Methyltransferases / genetics
DNA Methylation
Humans
Intellectual Disability* / diagnosis
Intellectual Disability* / genetics
Methylation

Substances

DNA (Cytosine-5-)-Methyltransferases
DNMT3A protein, human