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

doi:10.1111/cge.14688

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

Community

Back to search

Article

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

Clinical genetics - 1 May 2025

Colson Cindy, Tessarech Marine, Boucher-Brischoux Elise, Boute-Benejean Odile, Vincent-Delorme Catherine, Vanlerberghe Clémence, Boussion Simon, Cunff Justine Le, Duban-Bedu Bénédicte, Faivre Laurence, Thauvin Christel, Philippe Christophe, Bruel Ange-Line, Tran Mau-Them Frédéric, Houdayer Clara, Lesca Gaetan, Putoux Audrey, Lévy Jonathan, Patat Olivier, Rio Marlène, Ghoumid Jamal, Smol Thomas

Abstract excerpt

Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohort presented with a wide range of clinical features...

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Blepharoptosis

Share to Developmental Disabilities

Share to Facies

Share to Genetic Association Studies

Share to Infant

Share to Intellectual Disability

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 39837771
DOI: 10.1111/cge.14688
PMCID: PMC11973018

Genes

BRPF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.PMID 39837771Read ↗

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

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

Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.Semantic proximity Read ↗

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

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

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.Semantic proximity Read ↗

Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.Semantic proximity Read ↗

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

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

Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.Semantic proximity Read ↗

The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients.Semantic proximity Read ↗

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