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A Novel Homozygous Variant in the Mcoln1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism Publisher Pubmed



Ghasemi A2, 3 ; Eslami Ardakani M4 ; Togha M4 ; Yazdi N5 ; Lang AE6, 7, 8 ; Amini E5, 9 ; Rohani M5 ; Alavi A2, 3
Authors

Source: Canadian Journal of Neurological Sciences Published:2024


Abstract

Background: Mucolipidosis type IV (MLIV) is a rare, progressive lysosomal storage disorder characterized by severe intellectual disability, delayed motor milestones, and ophthalmologic abnormalities. MLIV is an autosomal recessive disease caused by mutations in the MCOLN1 gene, encoding mucolipin-1 which is responsible for maintaining lysosomal function. Objectives and Methods: Here, we report a family of four Iranian siblings with cognitive decline, progressive visual and pyramidal disturbances, and abnormal movements manifested by severe oromandibular dystonia and parkinsonism. MRI scans of the brain demonstrated signal abnormalities in the white matter and thinning of the corpus callosum. Results and Conclusions: Whole-exome sequencing (WES) identified a novel homozygous variant, c.362C
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