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.

Astrocytes and lysosomal storage diseases

“…Clinical manifestations include coarsened facial features, ichthyosis, deafness, splenomegaly, and hepatomegaly (Burk et al, 1984, Macaulay et al, 1998, Diaz-Font et al, 2005). Children with MSD develop leukodystrophy, leading to movement disorders and developmental delay with occasional seizures (Guerra et al, 1990, Incecik et al, 2013). The late-infantile form is the most common type of MSD.…”

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement

“…The deficient enzyme, steroid sulfatase, helps to release keratinocytes from the substratum corneum, leading to overcornification (50). The ichthyosis of MSD typically manifests initially as dry skin and later on as thickened, dark leaf-like scales (6, 7, 18, 19, 22). Medications to soften the skin, including keratolytics or topical vitamin D, may be helpful (50).…”

The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation

“…According to the genetic analysis, chromosome 3p26 and factor 1 (SUMF1) sulfatase‐modifying 1 are considered to be the most responsible genes for MSD. Generation of active sulfatases needs the post translational conversion of a cysteine to C‐formylglycine (FGly) . Herein, in this report, it was aimed to depict two rare cases from two different families with similar gene mutations and clinical presentation, neuro‐imaging, and laboratory result of MSD in Iran.…”

“…Generation of active sulfatases needs the post translational conversion of a cysteine to C-formylglycine (FGly). 6,7 Herein, in this report, it was aimed to depict two rare cases from two different families with similar gene mutations and clinical presentation, neuro-imaging, and laboratory result of MSD in Iran. As these two families are not blood related, a founder mutation may have presented in these individuals.…”