Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature

Turk J Pediatr. Jul-Aug 2014;56(4):418-22.

Abstract

Multiple sulfatase deficiency is a rare autosomal recessive disorder in which affected individuals present a complex phenotype due to the impaired activity of all sulfatases. There are different types of multiple sulfatase deficiency; among them, the neonatal form is the most severe, with a broad range of mucopolysaccharidosis-like symptoms and death within the first year of life. The disorder is caused by homozygous or compound heterozygous mutations in the sulfatase-modifying factor-1 (SUMF1) gene. In this article, we describe a non-ichthyotic neonatal multiple sulfatase deficiency patient with a novel mutation in the SUMF1 gene. The missense mutation c.777C>G, for which the patient was homozygous, had been caused by a p.N259K amino acid substitution. We evaluated the patient using clinical findings, neuroimaging studies and molecular analysis via the literature; we also wanted to note the difficulties in the diagnosis of this rare disease.

Publication types

  • Case Reports
  • Review

MeSH terms

  • DNA / genetics*
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Multiple Sulfatase Deficiency Disease / diagnosis
  • Multiple Sulfatase Deficiency Disease / genetics*
  • Multiple Sulfatase Deficiency Disease / metabolism
  • Mutation*
  • Phenotype
  • Sulfatases / genetics*
  • Sulfatases / metabolism

Substances

  • DNA
  • Sulfatases