Multiple Sulfatase Deficiency (SUMF1)

Multiple sulfatase deficiency is an autosomal recessive disorder that is caused by pathogenic variants in the gene SUMF1. While it is found in different ethnicities around the world, it may be more prevalent in individuals of Ashkenazi Jewish descent due to the presence of a founder mutation. Clinical symptoms usually appear at the age of 1 or 2 years, but may appear earlier or later. These symptoms include leukodystrophy, seizures, developmental delay, slow growth, and progressive loss of mental abilities. Skeletal defects, coarse facial features, and enlarged organs and hearing loss are often present. Patients with onset in the neonatal period often die within the first year of life, and patients with later onset usually die in childhood. It is not currently possible to predict the severity of the disease based on the genotype.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Multiple Sulfatase Deficiency SUMF11-6, 8, 9 [9] (*4)ARAshkenazi Jewish1 in 279>95%0.000179823772702751
Multiple Sulfatase Deficiency SUMF11-6, 8, 9 [9] (*4)ARWorldwide< 1 in 50041%0.00118063754427391