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Article

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

American journal of human genetics - 3 Apr 2014

Grozeva Detelina, Carss Keren, Spasic-Boskovic Olivera, Parker Michael J, Archer Hayley, Firth Helen V, Park Soo-Mi, Canham Natalie, Holder Susan E, Wilson Meredith, Hackett Anna, Field Michael, Floyd James A B, Hurles Matthew, Raymond F Lucy

Abstract excerpt

To identify further Mendelian causes of intellectual disability (ID), we screened a cohort of 996 individuals with ID for variants in 565 known or candidate genes by using a targeted next-generation sequencing approach. Seven loss-of-function (LoF) mutations-four nonsense (c.1195A>T [p.Lys399(∗)], c.1333C>T [p.Arg445(∗)], c.1866C>G [p.Tyr622(∗)], and c.3001C>T [p.Arg1001(∗)]) and three frameshift (c.2177_2178del...

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Adolescent
Child
Chromosome Deletion
Chromosomes, Human, Pair 3

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Methyltransferases

Source

Open in PubMed Open full text

Identifiers

PMID: 24680889
DOI: 10.1016/j.ajhg.2014.03.006
PMCID: PMC3980521

Genes

SETD5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.PMID 24680889Read ↗

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

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.Semantic proximity Read ↗

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