Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

  title={Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.},
  author={Maria Pia Cosma and Stefano Pepe and Giancarlo Parenti and Carmine Settembre and Ida Annunziata and Richard Wade-Martins and Carmela Di Domenico and Paola di Natale and Anuj Mankad and Barbara Cox and Graziella Uziel and Grazia M S Mancini and Enrico Zammarchi and Maria Alice Donati and Wim J. Kleijer and Mirella Filocamo and Romeo Carrozzo and Massimo Carella and Andrea Ballabio},
  journal={Human mutation},
  volume={23 6},
Multiple sulfatase deficiency (MSD) is a rare disorder characterized by impaired activity of all known sulfatases. The gene mutated in this disease is SUMF1, which encodes a protein involved in a post-translational modification at the catalytic site of all sulfatases that is necessary for their function. SUMF1 strongly enhances the activity of sulfatases when coexpressed with sulfatase in Cos-7 cells. We performed a mutational analysis of SUMF1 in 20 MSD patients of different ethnic origin. The… CONTINUE READING
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