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

YİŞ U., Pepe S., Kurul S. H., Ballabio A., Cosma M. P., Dirik E.

BRAIN & DEVELOPMENT, cilt.30, sa.5, ss.374-377, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Sayı: 5
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1016/j.braindev.2007.10.007
  • Dergi Adı: BRAIN & DEVELOPMENT
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.374-377
  • Anahtar Kelimeler: ichtyosis, child, psychomotor retardation, SUMF1 protein
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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. (c) 2007 Elsevier B.V. All rights reserved.