title: A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).
abstract: BACKGROUND
  Schimke immuno-osseous dysplasia (SIOD, OMIM #242900) is an autosomal-recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. SIOD is caused by mutations in the gene SMARCAL1.
  
  
  METHODS
  We report the clinical and genetic diagnosis of a 5-years old girl with SIOD, referred to our Center because of nephrotic-range proteinuria occasionally detected during the follow-up for congenital hypothyroidism. Mutational analysis of SMARCAL1 gene was performed by polymerase chain reaction (PCR) and bidirectional sequencing. Sequence analysis revealed that patient was compound heterozygous for two SMARCAL1 mutations: a novel missense change (p.Arg247Pro) and a well-known nonsense mutation (p.Glu848*).
  
  
  CONCLUSIONS
  This report provided the clinical and genetic description of a mild phenotype of Schimke immuno-osseous dysplasia associated with nephrotic proteinuria, decreasing after combined therapy with ACE inhibitors and sartans. Our experience highlighted the importance of detailed clinical evaluation, appropriate genetic counseling and molecular testing, to provide timely treatment and more accurate prognosis.
authors.forename: Luisa
authors.initials: L
authors.lastname: Santangelo
authors.forename: Maddalena
authors.initials: M
authors.lastname: Gigante
authors.forename: Giuseppe Stefano
authors.initials: GS
authors.lastname: Netti
authors.forename: Sterpeta
authors.initials: S
authors.lastname: Diella
authors.forename: Flora
authors.initials: F
authors.lastname: Puteo
authors.forename: Vincenza
authors.initials: V
authors.lastname: Carbone
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Grandaliano
authors.affiliation: Unit of Pediatric Nephrology, University Hospital "Policlinico Consorziale - Giovanni XXIII", Bari, Italy. mariogiordanobari@fastwebnet.it.
authors.forename: Mario
authors.initials: M
authors.lastname: Giordano
authors.forename: Loreto
authors.initials: L
authors.lastname: Gesualdo
mesh_terms: D001161:Arteriosclerosis / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D004265:DNA Helicases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D009404:Nephrotic Syndrome / Q000175:diagnosis* / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D000081207:Primary Immunodeficiency Diseases; D011655:Pulmonary Embolism / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C412482:SMARCAL1 protein, human; D004265:DNA Helicases