Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review.

ABSTRACT:

Background

Multiple sulfatase deficiency (MSD) is a rare lysosomal storage disorder caused due to pathogenic variants in the SUMF1 gene. The SUMF1 gene encodes for formylglycine generating enzyme (FGE) that is involved in the catalytic activation of the family of sulfatases. The affected patients present with a wide spectrum of clinical features including multi-organ involvement. To date, almost 140 cases of MSD have been reported worldwide, with only four cases reported from India. The present study describes two cases of late infantile form of MSD from India and the identification of a novel missense variant in the SUMF1 gene.

Case presentation

In case 1, a male child presented to us at the age of 6 years. The remarkable presenting features included ichthyosis, presence of

SUBMITTER: Sheth J 

PROVIDER: S-EPMC10037891 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature