Gene/phenotype/disorder under study
MED25, MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 25 (OMIM * 610197);
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME; BVSYS (OMIM # 616449)
Abstract
Basel–Vanagaite–Smirin–Yosef syndrome (BVSYS) is a rare autosomal recessive disorder characterized by multiple congenital anomalies, including developmental delay, intellectual disability, and a variable spectrum of ocular, neurological, cardiac, and palatal malformations.
The mediator of RNA polymerase II transcription subunit-25 (MED25) is a component of the mediator (MED) complex, a coactivator involved in the regulated transcription of the majority of RNA polymerase II-dependent
genes. The MED complex functions as a bridge, carrying information from gene-specific regulatory proteins to the RNA polymerase II transcription machinery (PMID: 14983011).
We are interested in performing genome methylation profiling in affected individuals to investigate the possibility of a diagnostic episignature, the clinical severity/variability and pathogenetic mechanism of the condition.
Supported by a grant from the Norwegian National Centre for Rare Diagnoses (#43066) and the Research Council of Norway (#358387).
Coordinating clinicians
Sofia Douzgou Houge MD, PhD, FRCP – sofia.douzgou.houge@gunnar-houge
Dilsu Dicle Erkan MD
Institutions
Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway
Norwegian Centre for Rare Diagnoses, Frambu and Brain disorders unit, Oslo, Norway
Department of Medical Genetics, Ankara Etlik City Hospital, Turkey
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes (DNA methylation analysis)
2- Resampling of patients: Yes (depending on DNA concentration)
3- Linked to a translational/basic research project: No