biostudies-literatureUnknown7(9)Barboza-Cerda MC<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>Twenty-seven from 105 missense variants found in 45 genes of the four exomes were considered siMolecular genetics & genomic medicinee931https://www.ebi.ac.uk/biostudies/studies/S-EPMC6732292biostudies-literaturePhenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.PMC6732292Dector MAMartinez-Aldape GGarza-Guajardo RBarboza-Quintana OBarboza-Cerda MCfalsePhenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>Twenty-seven from 105 missense variants found in 45 genes of the four exomes were considered si2019-01-01T00:00:00Z2019 Sep2026-04-07T14:23:38.941Z2019-09-24T07:08:49ZS-EPMC67322923139709310.1002/mgg3.931