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Multiple sulfatase deficiency with neonatal manifestation
Livia Garavelli1, Lucia Santoro2, Alexandra Iori3,4
1Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. garavelli.livia@asmn.re.it.
Italian Journal of Pediatrics
|December 18, 2014
Summary
Multiple Sulfatase Deficiency (MSD) is a rare metabolic disorder. A new case in a newborn with specific SUMF1 mutations highlights the genetic basis of this severe condition.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Multiple Sulfatase Deficiency (MSD) is a rare autosomal recessive metabolic disorder.
- It results from mutations in the SUMF1 gene, which encodes the formylglycine-generating enzyme (FGE).
- MSD leads to the accumulation of various sulfated molecules in tissues.
Observation:
- A newborn presented with severe symptoms including hypotonia, apnea, cyanosis, and neurological signs.
- Clinical manifestations also included hepatosplenomegaly and deafness.
- The patient exhibited a severe phenotype from the neonatal period.
Findings:
- Genetic analysis revealed the patient was compound heterozygous for two novel SUMF1 mutations: c.191C>A (p.S64X) and c.818A>G (p.D273G).
- These mutations are predicted to impair the function of the formylglycine-generating enzyme.
- The identified mutations contribute to the understanding of genotype-phenotype correlations in MSD.
Implications:
- This case expands the known spectrum of SUMF1 mutations associated with Multiple Sulfatase Deficiency.
- Understanding novel mutations aids in diagnosing and potentially managing rare metabolic disorders.
- Further research into FGE function and MSD pathogenesis is warranted.
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