Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

ABSTRACT:

Background

Male EBP disorder with neurologic defects (MEND) syndrome is an X-linked disease caused by hypomorphic mutations in the EBP (emopamil-binding protein) gene. Modifier genes may explain the clinical variability among individuals who share a primary mutation.

Methods

We studied four males (Patient 1 to Patient 4) exhibiting a descending degree of phenotypic severity from a family with MEND syndrome. To identify candidate modifier genes that explain the phenotypic variability, variants of homeostasis cholesterol genes identified by whole-exome sequencing (WES) were ranked according to the predicted magnitude of their effect through an in-house scoring system.

Results

Twenty-seven from 105 missense variants found in 45 genes of the four exomes were considered si

SUBMITTER: Barboza-Cerda MC 

PROVIDER: S-EPMC6732292 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature