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The gene, which is expressed in late endosomes and lysosomes of various tissue cells, encodes the transient receptor potential channel mucolipin 1 consisting of six transmembrane domains. Here, we described 14\u2010year follow\u2010up observation of a 4\u2010year\u2010old Japanese male MLIV patient with a novel homozygous in\u2010frame deletion variant p.(F313del), which was identified by whole\u2010exome sequencing analysis. Neurological examination revealed progressive psychomotor delay, and atrophy of the corpus callosum and cerebellum was observed on brain magnetic resonance images. Ophthalmologically, corneal clouding has remained unchanged during the follow\u2010up period, whereas optic nerve pallor and retinal degenerative changes exhibited progressive disease courses. Light\u2010adapted electroretinography was non\u2010recordable. Transmission electron microscopy of granulocytes revealed characteristic concentric multiple lamellar structures and an electron\u2010dense inclusion in lysosomes. The in\u2010frame deletion variant was located within the second transmembrane domain, which is of putative functional importance for channel properties.<\/jats:p>","DOI":"10.1002\/ajmg.a.61575","type":"journal-article","created":{"date-parts":[[2020,3,27]],"date-time":"2020-03-27T10:29:31Z","timestamp":1585304971000},"page":"1500-1505","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Long\u2010term observation of a Japanese mucolipidosis <scp>IV<\/scp> patient with a novel homozygous p.F313del variant of <scp><i>MCOLN1<\/i><\/scp>"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1535-0279","authenticated-orcid":false,"given":"Takaaki","family":"Hayashi","sequence":"first","affiliation":[{"name":"Department of Ophthalmology The Jikei University School of Medicine  Tokyo Japan"},{"name":"Department of Ophthalmology, Katsushika Medical Center The Jikei University School of 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