Article
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.
Clinical genetics - 1 Oct 2024
Lin Siying, Robson Anthony G, Thompson Dorothy A, Stepien Karolina M, Lachmann Robin, Footitt Emma, Czyz Ola, Chandrasekhar Shwetha, Schiff Elena, Iosifidis Christos, Black Graeme C, Michaelides Michel, Mahroo Omar A, Arno Gavin, Webster Andrew R
Abstract excerpt
Biallelic variants in SUMF1 are associated with multiple sulfatase deficiency (MSD), a rare lysosomal storage disorder typically diagnosed in early infancy or childhood, marked by severe neurodegeneration and early mortality. We present clinical and molecular characterisation of three unrelated patients aged 13 to 58 years with milder clinical manifestations due to SUMF1 disease variants, including two adult...
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