Study of a New Genetic Variant in EBP Linked to MEND Syndrome
Author Information
Author(s): Bibi Hadiba, Ahmad Riaz, Rahman Fatima, Maqbool Shazia, Naeem Muhammad, Efthymiou Stephanie, Houlden Henry
Primary Institution: Quaid-i-Azam University, Islamabad, Pakistan
Hypothesis
The study aims to investigate disease-causing variants in a family affected by MEND syndrome.
Conclusion
The study identifies a novel pathogenic variant in the EBP gene associated with MEND syndrome, expanding the known mutation spectrum.
Supporting Evidence
- The identified variant NM_006579.3:c.556T>C was found segregating in the affected family.
- In-silico analysis supported the pathogenicity of the identified variant.
- This is the first report of MEND syndrome from Pakistan.
Takeaway
This study found a new genetic change in a family with a rare disorder that affects how their bodies make cholesterol.
Methodology
Whole exome sequencing was performed on genomic DNA from two patients, followed by Sanger sequencing to confirm the findings.
Limitations
The study is limited by the small sample size and the rarity of the disorder.
Participant Demographics
Two male patients from a consanguineous family in Pakistan.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website