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

The clinical spectrum of a nonsense mutation in KAT6A: a case report.

The Journal of international medical research - 1 Dec 2022

Wang Dongbo, He Jun, Li Xueyi, Yan Shuyuan, Pan Linglin, Wang Tuanmei, Zhou Liangrong, Liu Jiyang, Peng Xiangwen

Abstract excerpt

KAT6A syndrome is an autosomal dominant genetic disorder associated with intellectual disability due to mutations in the lysine acetyltransferase 6A (KAT6A) gene. There are some differences in phenotype between KAT6A gene variants. This current case report describes a 1-month-old male infant that had a nonsense mutation in the KAT6A gene. Neither of his parents had the mutation. The proband had feeding...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to Heart Septal Defects, Atrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histone Acetyltransferases

Share to Intellectual Disability

Share to Mutation

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 36573038
DOI: 10.1177/03000605221140304
PMCID: PMC9806384

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

The clinical spectrum of a nonsense mutation in KAT6A: a case report.PMID 36573038Read ↗

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 ↗

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

Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.Semantic proximity Read ↗

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

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

Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome.Semantic proximity Read ↗

PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient.Semantic proximity Read ↗

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.Semantic proximity Read ↗

[Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation: a report of 2 cases].Semantic proximity Read ↗

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

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