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Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.

Molecular genetics and metabolism - 1 Jul 2017

Jaszczuk Ilona, Schlotawa Lars, Dierks Thomas, Ohlenbusch Andreas, Koppenhöfer Dominique, Babicz Mariusz, Lejman Monika, Radhakrishnan Karthikeyan, Ługowska Agnieszka

Abstract excerpt

Multiple sulfatase deficiency (MSD) is a rare inherited metabolic disease caused by defective cellular sulfatases. Activity of sulfatases depends on post-translational modification catalyzed by formylglycine-generating enzyme (FGE), encoded by the SUMF1 gene. SUMF1 pathologic variants cause MSD, a syndrome presenting with a complex phenotype. We describe the first Polish patient with MSD caused by a yet...

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PMID: 28566233
DOI: 10.1016/j.ymgme.2017.05.013

Genes

SUMF1

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