Multiple sulfatase deficiency in a Turkish family resulting  from a novel mutation.
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.
Yiş
Uluç
U
Dokuz Eylül University School of Medicine, Department of Pediatrics, Division of Child Neurology, 35340, ĺzmir, Turkey. ulyis@yahoo.com
Pepe
Stefano
S
Kurul
Semra Hiz
SH
Ballabio
Andrea
A
Cosma
Maria Pia
MP
Dirik
Eray
E
D001120:Arginine / Q000235:genetics; D001284:Atrophy / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005998:Glycine / Q000235:genetics; D006801:Humans; D007223:Infant; D052517:Multiple Sulfatase Deficiency Disease / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D050862:Oxidoreductases Acting on Sulfur Group Donors; D013429:Sulfatases / Q000235:genetics*; D014421:Turkey
D001120:Arginine; D050862:Oxidoreductases Acting on Sulfur Group Donors; C480483:SUMF1 protein, human; D013429:Sulfatases; D005998:Glycine