Related Experiment Video
Updated: Oct 24, 2026
Profiling of Permethylated Mucin O-glycans Using Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry
Published on: June 20, 2025
Molecular characterization of mucolipidosis: A case-series from Iran
Mohadeseh Fathi1, Sheyda Khalilian1, Parvaneh Karimzadeh2
1Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Abstract:
Mucolipidoses (ML) are autosomal recessive lysosomal storage disorders caused by different variants. This study was performed on six unrelated Iranian cases of ML. We identified pathogenic variants in the GNPTAB,GNPTG, andMCOLN1 genes in these cases, with two cases exhibiting the same variant in the GNPTABgene (c.3503_3504del, p.L1168Qfs*5). All variants were homozygous and classified as pathogenic according to ACMG guidelines, with supporting evidence from ClinVar and population frequency data (gnomAD). This study shows both common and divergent features of ML subtypes, providing insights into clinical and molecular characterization of ML. The recurrent variant and homozygous inheritance patterns highlight the significance of genetic screening in consanguineous families. Future work should focus on discovering therapeutic strategies designed to specific genetic subtypes of ML.
