Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

doi:10.1111/cge.14498

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Article

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

Clinical genetics - 1 Jun 2024

Rots Dmitrijs, Rooney Kathleen, Relator Raissa, Kerkhof Jennifer, McConkey Haley, Pfundt Rolph, Marcelis Carlo, Willemsen Marjolein H, van Hagen Johanna M, Zwijnenburg Petra, Alders Marielle, Õunap Katrin, Reimand Tiia, Fjodorova Olga, Berland Siren, Liahjell Eva Benedicte, Bojovic Ognjen, Kriek Marjolein, Ruivenkamp Claudia, Bonati Maria Teresa, Brunner Han G, Vissers Lisenka E L M, Sadikovic Bekim, Kleefstra Tjitske

Abstract excerpt

Precise regulation of gene expression is important for correct neurodevelopment. 9q34.3 deletions affecting the EHMT1 gene result in a syndromic neurodevelopmental disorder named Kleefstra syndrome. In contrast, duplications of the 9q34.3 locus encompassing EHMT1 have been suggested to cause developmental disorders, but only limited information has been available. We have identified 15 individuals from 10...

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Identifiers

PMID: 38384171
DOI: 10.1111/cge.14498

Genes

EHMT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.PMID 38384171Read ↗

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