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Article

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

American journal of human genetics - 5 Jan 2017

Mattioli Francesca, Schaefer Elise, Magee Alex, Mark Paul, Mancini Grazia M, Dieterich Klaus, Von Allmen Gretchen, Alders Marielle, Coutton Charles, van Slegtenhorst Marjon, Vieville Gaëlle, Engelen Mark, Cobben Jan Maarten, Juusola Jane, Pujol Aurora, Mandel Jean-Louis, Piton Amélie

Abstract excerpt

Intellectual disability (ID) is a common neurodevelopmental disorder exhibiting extreme genetic heterogeneity, and more than 500 genes have been implicated in Mendelian forms of ID. We performed exome sequencing in a large family affected by an autosomal-dominant form of mild syndromic ID with ptosis, growth retardation, and hypotonia, and we identified an inherited 2 bp deletion causing a frameshift in BRPF1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 3

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Source

Open in PubMed Open full text

Identifiers

PMID: 27939639
DOI: 10.1016/j.ajhg.2016.11.010
PMCID: PMC5223023

Genes

BRPF1
SETD5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.PMID 27939639Read ↗

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