Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation

Brain Dev. 2008 May;30(5):374-7. doi: 10.1016/j.braindev.2007.10.007.

Abstract

Multiple sulfatase deficiency (MSD) is an inherited lysosomal storage disease that affects post-translational activation of all of the sulfatases. Since biochemical and clinical findings are variable, the diagnosis is difficult in most of the cases. Missense, nonsense, microdeletion and splicing mutations in SUMF1 gene were found in all of the MSD patients analyzed. Here, we present clinical findings of two consanguineous patients with multiple sulfatase deficiency. They were found to be homozygous for a novel missense mutation c.739G > C causing a p.G247R amino acid substitution in the SUMF1 protein.

Publication types

  • Case Reports

MeSH terms

  • Arginine / genetics
  • Atrophy / pathology
  • Cerebral Cortex / pathology
  • Child, Preschool
  • Family Health*
  • Female
  • Glycine / genetics
  • Humans
  • Infant
  • Multiple Sulfatase Deficiency Disease / genetics*
  • Multiple Sulfatase Deficiency Disease / pathology
  • Mutation / genetics*
  • Oxidoreductases Acting on Sulfur Group Donors
  • Sulfatases / genetics*
  • Turkey

Substances

  • Arginine
  • Oxidoreductases Acting on Sulfur Group Donors
  • SUMF1 protein, human
  • Sulfatases
  • Glycine