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Article

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 -Related Disorders to a Syndromic Multiple Tumor Phenotype.

American journal of medical genetics. Part A - 1 Jul 2025

Lucain Marie, Vitobello Antonio, Sadikovic Bekim, Albuisson Juliette, Gaudillat Léa, Chevarin Martin, Maraval Julien, Thauvin-Robinet Christel, Kerkhof Jennifer, Philippe Christophe, Nambot Sophie, Faivre Laurence

Abstract excerpt

SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2-NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth. A distinctive DNA methylation episignature has been identified for Luscan-Lumish syndrome. A less common phenotype, denoted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40104911
DOI: 10.1002/ajmg.a.64043

Genes

SETD2

Variants

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Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 -Related Disorders to a Syndromic Multiple Tumor Phenotype.PMID 40104911Read ↗

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