Multiple sulfatase deficiency: A case series of four children.

Abstract:

: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.

journal_name

Ann Indian Acad Neurol

authors

Incecik F,Ozbek MN,Gungor S,Pepe S,Herguner OM,Mungan NO,Gungor S,Altunbasak S

doi

10.4103/0972-2327.120449

subject

Has Abstract

pub_date

2013-10-01 00:00:00

pages

720-2

issue

4

eissn

0972-2327

issn

1998-3549

pii

AIAN-16-720

journal_volume

16

pub_type

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