MYORG is associated with recessive primary familial brain calcification.

ABSTRACT:

Objective

To investigate the genetic basis of the recessive form of primary familial brain calcification and study pathways linking a novel gene with known dominant genes that cause the disease.

Methods

Whole exome sequencing and Sanger-based segregation analysis were used to identify possible disease causing mutations. Mutation pathogenicity was validated by structural protein modeling. Functional associations between the candidate gene, MYORG, and genes previously implicated in the disease were examined through phylogenetic profiling.

Results

We studied nine affected individuals from two unrelated families of Middle Eastern origin. The median age of symptom onset was 29.5 years (range 21-57 years) and dysarthria was the most common presenting symptom. We iden

SUBMITTER: Arkadir D 

PROVIDER: S-EPMC6331209 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature