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

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

American journal of human genetics - 11 Nov 2011

Clayton-Smith Jill, O'Sullivan James, Daly Sarah, Bhaskar Sanjeev, Day Ruth, Anderson Beverley, Voss Anne K, Thomas Tim, Biesecker Leslie G, Smith Philip, Fryer Alan, Chandler Kate E, Kerr Bronwyn, Tassabehji May, Lynch Sally-Ann, Krajewska-Walasek Malgorzata, McKee Shane, Smith Janine, Sweeney Elizabeth, Mansour Sahar, Mohammed Shehla, Donnai Dian, Black Graeme

Abstract excerpt

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) is a multiple anomaly syndrome characterized by severe intellectual disability, blepharophimosis, and a mask-like facial appearance. A number of individuals with SBBYSS also have thyroid abnormalities and cleft palate. The cond...

Read the complete abstract on PubMed

Topics

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

Share to Blepharophimosis
Share to Chromosomes, Human, Pair 10

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Congenital Hypothyroidism

Share to Facies

Share to Histone Acetyltransferases

Share to Joint Instability

Share to Metabolism, Inborn Errors

Share to Microarray Analysis

Source

Open in PubMed Open full text

Identifiers

PMID: 22077973
DOI: 10.1016/j.ajhg.2011.10.008
PMCID: PMC3213399

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22077973-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.PMID 22077973Read ↗

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.Semantic proximity Read ↗

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.Semantic proximity Read ↗

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

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

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.Semantic proximity Read ↗

Clinical heterogeneity of polish patients with KAT6B-related disorder.Semantic proximity Read ↗

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

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.Semantic proximity Read ↗

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.Semantic proximity Read ↗

De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report.Semantic proximity Read ↗

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.Semantic proximity Read ↗

An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.Semantic proximity Read ↗

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