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Multiple sulfatase deficiency with neonatal manifestation.

  • Garavelli L Clinical 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.
  • Santoro L Pediatrics Unit, UNIVPM, Ancona, Italy. dott.luciasantoro@gmail.com.
  • Iori A Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. alexandra.iori@gmail.com.
  • Gargano G Neonatal Intensive Care Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. gargano.giancarlo@asmn.re.it.
  • Braibanti S Neonatal Intensive Care Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. braibanti.silvia@asmn.re.it.
  • Pedori S Neonatal Intensive Care Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. pedori.simona@asmn.re.it.
  • Melli N Neonatal Intensive Care Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. melli.nives@asmn.re.it.
  • Frattini D Pediatric Neurology Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. frattini.daniele@asmn.re.it.
  • Zampini L Pediatrics Unit, UNIVPM, Ancona, Italy. lucia.zampini@ospedaliriuniti.marche.it.
  • Galeazzi T Pediatrics Unit, UNIVPM, Ancona, Italy. tiziana.galeazzi@ospedaliriuniti.marche.it.
  • Padella L Pediatrics Unit, UNIVPM, Ancona, Italy. lucia.padella@libero.it.
  • Pepe S Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131, Naples, Italy. pepe@tigem.it.
  • Wischmeijer A Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. wischmeijer.anita@asmn.re.it.
  • Rosato S Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. rosato.simoneta@asmn.re.it.
  • Ivanovski I Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. ivan.ivanovski@asmn.re.it.
  • Iughetti L Department of Medical and Surgical Sciences of Childhood and Adult, University of Modena and Reggio Emilia, Modena, Italy. iughetti.lorenzo@unimore.it.
  • Gelmini C Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. gelmini.chiara@asmn.re.it.
  • Bernasconi S Deparment of Pediatrics, University of Parma, Parma, Italy. sergio.bernasconi@unipr.it.
  • Superti-Furga A Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Lausanne, Switzerland. asuperti@unil.ch.
  • Ballabio A Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131, Naples, Italy. ballabio@tigem.it.
  • Gabrielli O Pediatrics Unit, UNIVPM, Ancona, Italy. o.gabrielli@univpm.it.
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  • 2014-12-18
Published in:
  • Italian journal of pediatrics. - 2014
DNA
DNA Mutational Analysis
Female
Humans
Infant, Newborn
Multiple Sulfatase Deficiency Disease
Mutation
Oxidoreductases Acting on Sulfur Group Donors
Sulfatases
English Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue accumulation of sulfatides, sulphated glycosaminoglycans, sphingolipids and steroid sulfates. Less than 50 cases have been published so far. We report a new case of MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C > A; p.S64X and c.818A > G; p.D273G).
Language
  • English
Open access status
gold
Identifiers
Persistent URL
https://sonar.ch/global/documents/248401
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