title: Multiple sulfatase deficiency with neonatal manifestation.
abstract: 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).
authors.affiliation: 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.
authors.forename: Livia
authors.initials: L
authors.lastname: Garavelli
authors.affiliation: Pediatrics Unit, UNIVPM, Ancona, Italy. dott.luciasantoro@gmail.com.
authors.forename: Lucia
authors.initials: L
authors.lastname: Santoro
authors.affiliation: 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.|Department of Medical and Surgical Sciences of Childhood and Adult, University of Modena and Reggio Emilia, Modena, Italy. alexandra.iori@gmail.com.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Iori
authors.affiliation: 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.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Gargano
authors.affiliation: 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.
authors.forename: Silvia
authors.initials: S
authors.lastname: Braibanti
authors.affiliation: 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.
authors.forename: Simona
authors.initials: S
authors.lastname: Pedori
authors.affiliation: 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.
authors.forename: Nives
authors.initials: N
authors.lastname: Melli
authors.affiliation: 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.
authors.forename: Daniele
authors.initials: D
authors.lastname: Frattini
authors.affiliation: Pediatrics Unit, UNIVPM, Ancona, Italy. lucia.zampini@ospedaliriuniti.marche.it.
authors.forename: Lucia
authors.initials: L
authors.lastname: Zampini
authors.affiliation: Pediatrics Unit, UNIVPM, Ancona, Italy. tiziana.galeazzi@ospedaliriuniti.marche.it.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Galeazzi
authors.affiliation: Pediatrics Unit, UNIVPM, Ancona, Italy. lucia.padella@libero.it.
authors.forename: Lucia
authors.initials: L
authors.lastname: Padella
authors.affiliation: Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131, Naples, Italy. pepe@tigem.it.
authors.forename: Stefano
authors.initials: S
authors.lastname: Pepe
authors.affiliation: 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.|Department of Medical Genetics, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy. wischmeijer.anita@asmn.re.it.
authors.forename: Anita
authors.initials: A
authors.lastname: Wischmeijer
authors.affiliation: 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.
authors.forename: Simonetta
authors.initials: S
authors.lastname: Rosato
authors.affiliation: 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.
authors.forename: Ivan
authors.initials: I
authors.lastname: Ivanovski
authors.affiliation: Department of Medical and Surgical Sciences of Childhood and Adult, University of Modena and Reggio Emilia, Modena, Italy. iughetti.lorenzo@unimore.it.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Iughetti
authors.affiliation: 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.
authors.forename: Chiara
authors.initials: C
authors.lastname: Gelmini
authors.affiliation: Deparment of Pediatrics, University of Parma, Parma, Italy. sergio.bernasconi@unipr.it.
authors.forename: Sergio
authors.initials: S
authors.lastname: Bernasconi
authors.affiliation: Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Lausanne, Switzerland. asuperti@unil.ch.
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.affiliation: Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131, Naples, Italy. ballabio@tigem.it.|Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. ballabio@tigem.it.|Jan and Dan Duncan Neurological Research Institute, Texas Children Hospital, Houston, TX, 77030, USA. ballabio@tigem.it.|Medical Genetics, Department of Translational Medicine, Federico II University, Via Pansini 5, 80131, Naples, Italy. ballabio@tigem.it.
authors.forename: Andrea
authors.initials: A
authors.lastname: Ballabio
authors.affiliation: Pediatrics Unit, UNIVPM, Ancona, Italy. o.gabrielli@univpm.it.
authors.forename: Orazio
authors.initials: O
authors.lastname: Gabrielli
mesh_terms: D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D052517:Multiple Sulfatase Deficiency Disease / Q000235:genetics*; D009154:Mutation; D050862:Oxidoreductases Acting on Sulfur Group Donors; D013429:Sulfatases / Q000235:genetics*
chemical_list: D004247:DNA; D050862:Oxidoreductases Acting on Sulfur Group Donors; C480483:SUMF1 protein, human; D013429:Sulfatases