Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities.

ABSTRACT:

Background

Dynamin 1 is a protein involved in the synaptic vesicle cycle, which facilitates the exocytosis of neurotransmitters necessary for normal signaling and development in the central nervous system. Pathogenic variants in DNM1 have been implicated in global developmental delay (DD), severe intellectual disability (ID), and notably, epileptic encephalopathy. All previously reported DNM1 pathogenic variants causing this severe phenotype occur in the GTPase and Middle domains of the dynamin 1 protein.

Methods

We used whole-exome sequencing to characterize the molecular basis of DD and autistic symptoms in two identical siblings.

Results

The twin siblings exhibit mild to moderate ID and autistic symptoms but no epileptic encephalopathy. Exome sequencing revealed a

SUBMITTER: Brereton E 

PROVIDER: S-EPMC5902389 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature