{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["7(9)"],"submitter":["Barboza-Cerda MC"],"pubmed_abstract":["<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 si"],"journal":["Molecular genetics & genomic medicine"],"pagination":["e931"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6732292"],"repository":["biostudies-literature"],"pubmed_title":["Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes."],"pmcid":["PMC6732292"],"pubmed_authors":["Dector MA","Martinez-Aldape G","Garza-Guajardo R","Barboza-Quintana O","Barboza-Cerda MC"],"additional_accession":[]},"is_claimable":false,"name":"Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.","description":"<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 si","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Sep","modification":"2026-04-07T14:23:38.941Z","creation":"2019-09-24T07:08:49Z"},"accession":"S-EPMC6732292","cross_references":{"pubmed":["31397093"],"doi":["10.1002/mgg3.931"]}}