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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.
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    Short stature and insulin-like growth Factor-I in neurofibromatosis Type I
    (2021) Koc Ucar, Habibe; Altunbasak, Sakir; Incecik, Faruk; Herguner, Ozlem; Yuksel, Bilgin; Burgut, Refik
    Aim: Certain NF1 patients have short stature due to unclear pathogenesis mechanisms. The aim of this study is to investigate endocrinology parameters which could affect height in NF1. Materials and Methods: Clinical data of 48 NF1 patients aged 19 months to 18 years were collected by reviewing medical records. Current physical examination findings including height, weight, and pubertal status were recorded. Serum samples were obtained from all subjects for follicle stimulating hormone (FSH), luteinizing hormone (LH), thyroid stimulating hormone (TSH), free T4 (FT4), free T3 insulin-like growth factor (IGF1), and insulin-like growth binding protein3 (IGFBP3) levels. Results: Of the 48 patients, 34 (70%) had height below 50 percentiles. Short stature, defined as height <-2 SD of mean for age and gender, was found in 25% of the patients. Pubertal children with short stature had significantly lower serum median IGF1 level than those with normal height. In the pre-pubertal group, serum median TSH level was significantly higher in those with short stature than those of normal height. Conclusion: Short stature in NF1 might be related to TSH in the pre-pubertal period and to IGF1 after puberty. Investigation of these hormonal pathways in correlation with height appears warranted in children with NF1.