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

Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy.

Molecular genetics & genomic medicine - 1 Sept 2023

Sun Xiaoang, Luo Xiaona, Lin Longlong, Wang Simei, Wang Chunmei, Yuan Fang, Lan Xiaoping, Yan Jingbin, Chen Yucai

Abstract excerpt

BACKGROUND: Lysine acetyltransferase 6B (KAT6B) encodes a highly conserved histone acetyltransferase that regulates the expression of multiple genes and is essential for human growth and development. METHODS: We identified a novel frameshift variant c.3185del (p.leu1062Argfs*52) in a 5-year-old Chinese boy and further analyzed KAT6B expression and its interacting complexes and downstream products using real-time...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to East Asian People

Share to Histone Acetyltransferases

Share to Intellectual Disability

Share to Mutation

Share to Phenotype

Share to RNA, Messenger

Source

Open in PubMed Open full text

Identifiers

PMID: 37288707
DOI: 10.1002/mgg3.2202
PMCID: PMC10496035

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy.PMID 37288707Read ↗

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 ↗

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

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

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

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

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

Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylationSemantic proximity Read ↗

What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.Semantic proximity Read ↗

The biological functions of Naa10 — From amino-terminal acetylation to human diseaseSemantic proximity Read ↗

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