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

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Nur B., Mıhçı E., Pepe S., Biberoğlu G., Ezgü F. S., Ballabio A., ...Daha Fazla

Turkish Journal of Pediatrics, cilt.56, sa.4, ss.418-422, 2014 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 56 Sayı: 4
  • Basım Tarihi: 2014
  • Dergi Adı: Turkish Journal of Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.418-422
  • Anahtar Kelimeler: Ichthyosis, Lysosomal storage disease, Multiple sulfatase deficiency, Neonatal
  • Akdeniz Üniversitesi Adresli: Evet

Özet

© 2014, Turkish Journal of Pediatrics. All rights reserved.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.