Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation

Area of Science:

• Genetics
• Biochemistry
• Neurology

Background:

• Multiple sulfatase deficiency (MSD) is an autosomal recessive lysosomal storage disorder.
• It results from a deficiency in formylglycine-generating enzyme, encoded by the Sulfatase Modifying Factor 1 (SUMF1) gene.
• Clinical manifestations are variable, commonly including developmental regression, intellectual disability, ichthyosis, and white matter disease.

Purpose of the Study:

• To report a novel homozygous missense mutation in the SUMF1 gene in six Saudi patients with MSD.
• To characterize the clinical phenotype of these patients.

Main Methods:

• Genetic analysis to identify mutations in the SUMF1 gene.
• Clinical assessment of the affected patients.

Main Results:

• A novel homozygous missense mutation (c.785A>G [p.Gln262Arg]) in the SUMF1 gene was identified in all six patients.
• Patients presented with developmental regression, intellectual disability, ichthyosis, and periventricular white matter disease.
• Unlike previous cohorts, organomegaly and skeletal abnormalities were absent in this cohort.

Conclusions:

• The novel SUMF1 mutation is pathogenic and causes MSD in the studied Saudi cohort.
• The absence of organomegaly and skeletal abnormalities in this cohort suggests potential genotype-phenotype correlations in MSD.