DNM1 encephalopathy: A new disease of vesicle fission.

ABSTRACT:

Objective

To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling.

Methods

We reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function.

Results

We identified 19 patients with de novo mutations in DNM1 and a sibling pair who had an inherited mutation from a mosaic parent. Seven patients (33.3%) carried the recurrent p.Arg237Trp mutation. A common phenotype emerged that included severe to profou

SUBMITTER: von Spiczak S 

PROVIDER: S-EPMC5574673 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature