Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

American journal of human genetics - 5 Mar 2015

Tham Emma, Lindstrand Anna, Santani Avni, Malmgren Helena, Nesbitt Addie, Dubbs Holly A, Zackai Elaine H, Parker Michael J, Millan Francisca, Rosenbaum Kenneth, Wilson Golder N, Nordgren Ann

Abstract excerpt

Through a multi-center collaboration study, we here report six individuals from five unrelated families, with mutations in KAT6A/MOZ detected by whole-exome sequencing. All five different de novo heterozygous truncating mutations were located in the C-terminal transactivation domain of KAT6A: NM_001099412.1: c.3116_3117 delCT, p.(Ser1039∗); c.3830_3831insTT, p.(Arg1278Serfs∗17); c.3879 dupA, p.(Glu1294Argfs∗19);...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Comparative Genomic Hybridization
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Genetic Loci

Share to Heterozygote

Share to Histone Acetyltransferases

Share to Intellectual Disability

Share to Microcephaly

Source

Open in PubMed Open full text

Identifiers

PMID: 25728777
DOI: 10.1016/j.ajhg.2015.01.016
PMCID: PMC4375419

Variants

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.PMID 25728777Read ↗

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.Semantic proximity Read ↗

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.Semantic proximity Read ↗

Diagnosis of Arboleda-Tham syndrome by whole-exome sequencing in an Asian girl with severe developmental delay.Semantic proximity Read ↗

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes.Semantic proximity Read ↗

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.Semantic proximity Read ↗

A case of KAT6A syndrome with a newly discovered mutation in the KAT6A gene, mainly manifested as bone marrow failure syndrome.Semantic proximity Read ↗

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.Semantic proximity Read ↗

Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.Semantic proximity Read ↗

Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic FeaturesSemantic proximity Read ↗

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.Semantic proximity Read ↗

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.Semantic proximity Read ↗

Phenotypical and Genotypical Expansion of Autosomal-Dominant KDM1A -Related Neurodevelopmental Disorder Spectrum: A Case Report.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.