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

Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases.

Ophthalmic genetics - 1 Aug 2024

Marziali Elisa, Landini Samuela, Fiorentini Erika, Rocca Camilla, Tiberi Lucia, Artuso Rosangela, Zaroili Laila, Dirupo Elia, Fortunato Pina, Bargiacchi Sara, Caputo Roberto, Bacci Giacomo Maria

Abstract excerpt

INTRODUCTION: BRPF1 gene on 3p26-p25 encodes a protein involved in epigenetic regulation, through interaction with histone H3 lysine acetyltransferases KAT6A and KAT6B of the MYST family. Heterozygous pathogenic variants in BRPF1 gene are associated with Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP), characterized by global developmental delay, intellectual disability, language...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Blepharoptosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to DNA-Binding Proteins

Share to Exome Sequencing

Share to Intellectual Disability

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 38590032
DOI: 10.1080/13816810.2024.2337879

Genes

BRPF1
KAT6A
KAT6B

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

Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases.PMID 38590032Read ↗

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.Semantic proximity Read ↗

BRPF1-associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development.Semantic proximity Read ↗

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.Semantic proximity Read ↗

Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature.Semantic proximity Read ↗

New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene.Semantic proximity Read ↗

Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome.Semantic proximity Read ↗

OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.Semantic proximity Read ↗

A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.Semantic proximity Read ↗

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.Semantic proximity Read ↗

Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.Semantic proximity Read ↗

Identification of novel variants in BRF1 gene from patient with developmental delay, hearing abnormality, and nervous system anomalies.Semantic proximity Read ↗

Case Report: A Case Report and Literature Review of 3p Deletion SyndromeSemantic proximity Read ↗

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