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

Human molecular genetics - 18 Jun 2025

Venier Ana Clara, Savy Sofía, Carro Gerardo, Guelbert Guillermo, Grondona Ezequiel, Guelbert Norberto, Nicola Juan Pablo, Pesaola Favio, De Paul Ana Lucía

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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Identifiers

PMID: 40327886
DOI: 10.1093/hmg/ddaf067

Genes

MFSD8

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