De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.

ABSTRACT:

Background

The human dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene encodes a large subunit of the cytoplasmic dynein complex. DYNC1H1 mutations are associated with various neurological diseases involving both the peripheral and central nervous systems.

Methods

The clinical characteristics and genetic data of an infant carrying the de novo DYNC1H1 variant identified by trio exome sequencing were analyzed. Patients with epilepsy with DYNC1H1 mutations were summarized by reviewing the literature.

Results

We first identified an infant presenting with epileptic spasms harboring a de novo missense mutation in DYNC1H1 (c.874C>T; p. Arg292Trp), once reported in an adult case, and further summarized another 54 patients with seizures or epilepsy caused by DYNC1H1 pathogenic

SUBMITTER: Su T 

PROVIDER: S-EPMC8922968 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature