Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.

ABSTRACT:

Background

The list of Mendelian disorders of the epigenetic machinery has expanded rapidly during the last 5 years. A few missense variants in the chromatin remodeler CHD1 have been found in several large-scale sequencing efforts focused on uncovering the genetic aetiology of autism.

Objectives

To explore whether variants in CHD1 are associated with a human phenotype.

Methods

We used GeneMatcher to identify other physicians caring for patients with variants in CHD1. We also explored the epigenetic consequences of one of these variants in cultured fibroblasts.

Results

Here we describe six CHD1 heterozygous missense variants in a cohort of patients with autism, speech apraxia, developmental delay and facial dysmorphic features. Import

SUBMITTER: Pilarowski GO 

PROVIDER: S-EPMC5834353 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature