A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis
Mohaddese Mohsenipour, Parham Nejati, Teymoor Khosravi, Elham Alimoradi, Mohammad Salehi, Morteza Oladnabi, Reza Alibakhshi · 2025
Read A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis by Mohaddese Mohsenipour, Parham Nejati, Teymoor Khosravi, Elham Alimoradi, Mohammad Salehi, Morteza Oladnabi, Reza Alibakhshi (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12723833.txt.
Description
Mohaddese Mohsenipour and co-authors find a new disease-causing gene variant in an Iranian boy with a rare storage disorder, in a 2025 study. Mucolipidosis type IV damages the brain and eyes, causing severe developmental delay and progressive vision loss. It arises when both copies of the MCOLN1 gene fail. The patient, a twelve-year-old from a consanguineous family, was examined clinically and by brain imaging, then his exome was sequenced.
The variant found was confirmed in the family by targeted sequencing, and software checks predicted it damages the protein. The team modelled the protein's three-dimensional shape and ran molecular dynamics simulations comparing normal and mutant versions, tracking stability, compactness, and bonding. Such combined clinical, genetic, and simulated evidence is how new variants get classified as truly pathogenic, guiding counselling for the family and others.
Catalog record
| CREATOR | Mohaddese Mohsenipour, Parham Nejati, Teymoor Khosravi, Elham Alimoradi, Mohammad Salehi, Morteza Oladnabi, Reza Alibakhshi |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 49 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |