Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.

doi:10.1038/ejhg.2014.165

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Article

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.

European journal of human genetics : EJHG - 1 Jun 2015

Kuechler Alma, Zink Alexander M, Wieland Thomas, Lüdecke Hermann-Josef, Cremer Kirsten, Salviati Leonardo, Magini Pamela, Najafi Kimia, Zweier Christiane, Czeschik Johanna Christina, Aretz Stefan, Endele Sabine, Tamburrino Federica, Pinato Claudia, Clementi Maurizio, Gundlach Jasmin, Maylahn Carina, Mazzanti Laura, Wohlleber Eva, Schwarzmayr Thomas, Kariminejad Roxana, Schlessinger Avner, Wieczorek Dagmar, Strom Tim M, Novarino Gaia, Engels Hartmut

Abstract excerpt

Intellectual disability (ID) has an estimated prevalence of 2-3%. Due to its extreme heterogeneity, the genetic basis of ID remains elusive in many cases. Recently, whole exome sequencing (WES) studies revealed that a large proportion of sporadic cases are caused by de novo gene variants. To identify further genes involved in ID, we performed WES in 250 patients with unexplained ID and their unaffected parents...

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Identifiers

PMID: 25138099
DOI: 10.1038/ejhg.2014.165
PMCID: PMC4795044

Genes

SETD5
SET

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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