BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family.

ABSTRACT:

Background

Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin reader, have been associated with a previously unrecognized autosomal dominant syndrome manifesting with intellectual disability (ID), hypotonia, dysmorphic facial features, ptosis, and/or blepharophimosis in 22 individuals.

Patients and methods

We report a multiply affected nonconsanguineous family of mixed Jewish descent who presented due to ID in three male siblings. Molecular analysis of the family was pursued using whole exome sequencing (WES) and subsequent Sanger sequencing.

Results

Whole exome sequencing analysis brought to the

SUBMITTER: Pode-Shakked N 

PROVIDER: S-EPMC6565580 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature