A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis.

Abstract excerpt

BACKGROUND: Mucolipidosis type IV (MLIV) is a rare autosomal recessive lysosomal storage disorder due to biallelic pathogenic variants in the MCOLN1 gene. Its main impact is on the central nervous system, leading to severe psychomotor delays, progressive visual impairment, and characteristic brain abnormalities. METHODS: A 12-year-old male from a consanguineous Iranian family underwent clinical and imaging...

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