title: Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
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.
authors.affiliation: Division of Pediatric Genetics, Department of Pediatrics, Akdeniz University, Faculty of Medicine, Antalya, Turkey. emihci@akdeniz.edu.tr.
authors.forename: Banu Güzel
authors.initials: BG
authors.lastname: Nur
authors.forename: Ercan
authors.initials: E
authors.lastname: Mıhçı
authors.forename: Stefano
authors.initials: S
authors.lastname: Pepe
authors.forename: Gürsel
authors.initials: G
authors.lastname: Biberoğlu
authors.forename: Fatih Süheyl
authors.initials: FS
authors.lastname: Ezgü
authors.forename: Andrea
authors.initials: A
authors.lastname: Ballabio
authors.forename: Osman
authors.initials: O
authors.lastname: Öztekin
authors.forename: Oğuz
authors.initials: O
authors.lastname: Dursun
mesh_terms: D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D052517:Multiple Sulfatase Deficiency Disease / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010641:Phenotype; D013429:Sulfatases / Q000235:genetics* / Q000378:metabolism
chemical_list: D004247:DNA; D013429:Sulfatases