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Article

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

Human genetics - 1 Feb 2015

Walz Katherina, Cohen Devon, Neilsen Paul M, Foster Joseph, Brancati Francesco, Demir Korcan, Fisher Richard, Moffat Michelle, Verbeek Nienke E, Bjørgo Kathrine, Lo Castro Adriana, Curatolo Paolo, Novelli Giuseppe, Abad Clemer, Lei Cao, Zhang Lily, Diaz-Horta Oscar, Young Juan I, Callen David F, Tekin Mustafa

Abstract excerpt

Mutations in ANKRD11 have recently been reported to cause KBG syndrome, an autosomal dominant condition characterized by intellectual disability (ID), behavioral problems, and macrodontia. To understand the pathogenic mechanism that relates ANKRD11 mutations with the phenotype of KBG syndrome, we...

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Identifiers

PMID: 25413698
DOI: 10.1007/s00439-014-1509-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25413698-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.PMID 25413698Read ↗

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.Semantic proximity Read ↗

Missense variants in <i>ANKRD11</i> cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinSemantic proximity Read ↗

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.Semantic proximity Read ↗

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.Semantic proximity Read ↗

Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.Semantic proximity Read ↗

A splice-site variant in ANKRD11 associated with classical KBG syndrome.Semantic proximity Read ↗

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.Semantic proximity Read ↗

KBG syndrome involving a single-nucleotide duplication in ANKRD11.Semantic proximity Read ↗

A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion.Semantic proximity Read ↗

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.Semantic proximity Read ↗

ANKRD11 variants: KBG syndrome and beyond.Semantic proximity Read ↗

Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.Semantic proximity Read ↗

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