This report describes a potential model of multiple sulfatase deficiency (MSD); MSD exhibits autosomal recessive inheritance. The gene implicated in this disease is sulfatase-modifying factor 1 (SUMF1), which is required for posttranslational modification and catalytic activation of sulfatase enzymes. There is a single orthologous gene in Drosophila, CG7049, for which an amorphic allele created by targeted recombination and RNAi-targeting constructs have been generated. CG7049 is also orthologous to the human gene SUMF2.
The human SUMF1 gene has not been introduced into flies.
A human disease model report has been created for this potential model because variants analogous to disease-implicated mutations in the human SUMF1 gene have been introduced into Dmel\CG7049 by homologous recombination; however, they have not yet been characterized. Variant(s) implicated in human disease introduced (as analogous mutation in fly gene): S131P in the fly CG7049 gene (corresponds to S155P in the human SUMF1 gene); R312C in the fly CG7049 gene (corresponds to R345C in the human SUMF1 gene). A large number of physical interactions have been described for CG7049; see below and in the CG7049 gene report.
[updated Nov. 2019 by FlyBase; FBrf0222196]
[MULTIPLE SULFATASE DEFICIENCY; MSD](https://omim.org/entry/272200)
[SULFATASE-MODIFYING FACTOR 1; SUMF1](https://omim.org/entry/607939)
Multiple sulfatase deficiency is an autosomal recessive inborn error of metabolism resulting in tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates. Affected individuals show neurologic deterioration with mental retardation, skeletal anomalies, organomegaly, and ichthyosis. Different types of MSD can be distinguished according to the age of onset: neonatal, late infantile (0 to 2 years), and juvenile (2 to 4 years). Earlier onset correlates with more severe phenotypes. [from MIM:272200; 2019.11.02]
Multiple sulfatase deficiency (MSD) is caused by homozygous or compound heterozygous mutation in the sulfatase-modifying factor-1 gene (SUMF1). [from MIM:272200; 2019.11.02]
The SUMF1 gene encodes an enzyme required for posttranslational modification and catalytic activation of the family of sulfatase enzymes. The enzymatic defect affects the whole family of sulfatase enzymes. [from MIM:607939 and MIM:272200; 2019.11.02]
Many to one: 2 human to 1 Drosophila.
High-scoring ortholog of human SUMF1; lower scoring ortholog of SUMF2 (1 Drosophila to 2 human). Dmel\CG7049 shares 40-44% identity and 53-56% similarity with the human genes.
