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

De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.

Brain & development - 1 May 2018

Saikusa Tomoko, Hara Munetsugu, Iwama Kazuhiro, Yuge Kotaro, Ohba Chihiro, Okada Jun-Ichiro, Hisano Tadashi, Yamashita Yushiro, Okamoto Nobuhiko, Saitsu Hirotomo, Matsumoto Naomichi, Matsuishi Toyojiro

Abstract excerpt

We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation in histone deacetylase 8 (HDAC8) (c.652G > T, p.Gly218Cys) was confirmed by whole exome sequencing...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to De Lange Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Heterozygote

Share to Histone Deacetylases

Share to Repressor Proteins

Share to Rett Syndrome

Source

Identifiers

PMID: 29519750
DOI: 10.1016/j.braindev.2017.12.013

Genes

HDAC8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.PMID 29519750Read ↗

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.Semantic proximity Read ↗

A commentary on exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.Semantic proximity Read ↗

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.Semantic proximity Read ↗

Phenotypic Manifestations of a New Variant in HDAC4 Gene.Semantic proximity Read ↗

Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.Semantic proximity Read ↗

Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.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 ↗

<i>De novo HDAC3</i>variants leading to epigenetic machinery dysfunction are associated with a neurodevelopmental disorderSemantic proximity Read ↗

Rett syndrome: clinical review and genetic update.Semantic proximity Read ↗

Clinical Features of a Japanese Girl With Radio-Tartaglia Syndrome due to a SPEN Truncating Variant.Semantic proximity Read ↗

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.Semantic proximity Read ↗

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variantsSemantic proximity Read ↗

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