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UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression

6 May 2025

Abstract excerpt

CLN7 is a lysosomal storage disease caused by pathogenic variants in the MFSD8/CLN7 gene. Typically neurodegenerative, patients present seizures and developmental delay since 2-6 years of age and a rapid psychomotor, verbal, and visual deterioration that leads to premature death. However, 'atypical' cases have also been reported. Although more than 80 DNA variants in the MFSD8/CLN7 gene have been reported, no...

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PMID: 40327886
DOI: 10.1093/hmg/ddaf067

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