Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.

ABSTRACT:

Background

Individuals affected with autism often suffer additional co-morbidities such as intellectual disability. The genes contributing to autism cluster on a relatively limited number of cellular pathways, including chromatin remodeling. However, limited information is available on how mutations in single genes can result in such pleiotropic clinical features in affected individuals. In this review, we summarize available information on one of the most frequently mutated genes in syndromic autism the Activity-Dependent Neuroprotective Protein (ADNP).

Results

Heterozygous and predicted loss-of-function ADNP mutations in individuals inevitably result in the clinical presentation with the Helsmoortel-Van der Aa syndrome, a frequent form of syndromic autism. ADNP, a zinc fin

SUBMITTER: D'Incal CP 

PROVIDER: S-EPMC10031977 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature