Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation

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• 作者：Uluç ; Yiş ; Stefano Pepe ; Semra Hı ; z Kurul ; Andrea Ballabio ; Maria Pia Cosma ; Eray Dirik
• 关键词：Ichtyosis ; Child ; Psychomotor retardation ; SUMF1 protein
• 刊名：Brain and Development
• 出版年：2008
• 出版时间：May 2008
• 年：2008
• 卷：30
• 期：5
• 页码：374-377
• 全文大小：369 K

文摘

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.