MSD has similar clinical characteristics to other sulfatase deficiencies, such as metachromatic leukodystrophy, the mucopolysaccharidoses, chondrodysplasia punctata type I, and X-linked ichthyosis. Clinical features include neurological deterioration, developmental delay, dysmorphism, organomegaly, skeletal abnormalities, and skin findings. The age of onset of features of MSD distinguish the subtypes: neonatal, late infantile, and juvenile disease. While neonatal MSD has the most severe phenotype, the majority of MSD cases are late infantile.
For patients with suspected MSD, sequence analysis is recommended as the first step in mutation identification. For patients in whom mutations are not identified by full gene sequencing, deletion/duplication analysis is appropriate.
• Scholotawa et al. (2011), Eur J Hum Genet, 19:253-261.
• OMIM #607939: SUMF1 gene
• OMIM #272200: MSD
- Confirmation of a clinical diagnosis of multiple sulfatase deficiency.
- Carrier testing in adults with a family history of multiple sulfatase deficiency.
Analytical Sensitivity: ~99%
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Deletion/duplication analysis of the SUMF1 gene by CGH array is available for those individuals in whom sequence analysis is negative.
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
- Prenatal testing is available only for known familial mutations to individuals who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.