Yiş Uluç, Pepe Stefano, Kurul Semra Hiz, Ballabio Andrea, Cosma Maria Pia, Dirik Eray
Dokuz Eylül University School of Medicine, Department of Pediatrics, Division of Child Neurology, 35340, ĺzmir, Turkey.
Brain Dev. 2008 May;30(5):374-7. doi: 10.1016/j.braindev.2007.10.007.
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.
多种硫酸酯酶缺乏症（MSD）是一种遗传性溶酶体贮积病，会影响所有硫酸酯酶的翻译后激活。由于生化和临床发现存在差异，大多数情况下诊断都很困难。在所有分析的MSD患者中均发现了SUMF1基因的错义、无义、微缺失和剪接突变。在此，我们报告了两名患有多种硫酸酯酶缺乏症的近亲患者的临床发现。他们被发现对于一个导致SUMF1蛋白中p.G247R氨基酸替代的新型错义突变c.739G > C是纯合的。
