Nur Banu Güzel, Mıhçı Ercan, Pepe Stefano, Biberoğlu Gürsel, Ezgü Fatih Süheyl, Ballabio Andrea, Öztekin Osman, Dursun Oğuz
Division of Pediatric Genetics, Department of Pediatrics, Akdeniz University, Faculty of Medicine, Antalya, Turkey.
Turk J Pediatr. 2014 Jul-Aug;56(4):418-22.
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.
多种硫酸酯酶缺乏症是一种罕见的常染色体隐性疾病，由于所有硫酸酯酶的活性受损，受影响个体表现出复杂的表型。多种硫酸酯酶缺乏症有不同类型；其中，新生儿型最为严重，有广泛的黏多糖贮积症样症状，并在出生后第一年内死亡。该疾病由硫酸酯酶修饰因子-1（SUMF1）基因的纯合或复合杂合突变引起。在本文中，我们描述了一名非鱼鳞病样的新生儿多种硫酸酯酶缺乏症患者，其SUMF1基因存在新的突变。该患者为纯合的错义突变c.777C>G，由p.N259K氨基酸取代引起。我们通过文献利用临床发现、神经影像学研究和分子分析对该患者进行了评估；我们还想指出这种罕见疾病诊断中的困难。
