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    Multiple sulfatase deficiency: A case series of four children
    (Medknow Publications & Media Pvt Ltd, 2013) Incecik, Faruk; Ozbek, Mehmet N.; Gungor, Serdal; Pepe, Stefano; Herguner, Ozlem M.; Mungan, Neslihan Onenli; Gungor, Sabiha
    Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The gene sulfatase-modifying factor 1 (SUMF1), recently identified, encodes the enzyme responsible for post-translational modification of a cysteine residue, which is essential for the activity of sulfatases. We describe clinical findings and mutation analysis of four patients. The patients presented with hypotonia, developmental delay, coarse face, ichthyosis, and hepatosplenomegaly. The diagnosis was made through clinical findings, enzymatic assays, and mutation analysis. We were detected to be homozygous for a novel missense mutation c. 739G > C causing a p. G247R amino acid substitution in the SUMF1 protein.
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    Neuro-ichthyotic Syndromes: A Case Series
    (Medknow Publications & Media Pvt Ltd, 2018) Incecik, Faruk; Herguner, Ozlem M.; Ozbek, Mehmet N.; Gungor, Serdal; Yilmaz, Mustafa; Rizzo, Wiliam B.; Mert, Gulen G.
    Background: The neuro-ichthyotic diseases are clinically and genetically heterogeneous. The purpose of this study was to evaluate the clinical and neuroradiological findings and to analyze mutation in 15 patients with neuro-ichthyotic diseases. Materials and Methods: We retrospectively analyzed the records of 15 patients with the diagnosis of neuro-ichthyotic diseases. Results: Eight female and seven male patients (age range 11 months-52 years) were investigated. There were eight patients with Sjogren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with mental retardation, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome. Parental consanguinity was found in all the patients except one. All patients had ichthyosis. Diagnosis was performed with genetic study. Conclusions: Because biochemical and clinical findings are variable, the diagnosis is difficult in most of the cases. Detailed skin and physical examinations are mandatory in these patients. Genetic tests are necessary for accurate diagnosis.