title: Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1).
abstract: X-linked severe combined immunodeficiency (SCIDX1) is an inherited disease characterized by profound abnormalities of cell-mediated and humoral immunity. Patients with SCIDX1 have defects in the common cytokine receptor gamma chain gene (IL2RG) that encodes a shared, essential component of the receptors for interleukin-2 (IL-2), IL-4, IL-7, IL-9 and IL-15. We have characterized nine SCIDX1 families by using a DNA-based, non-radioactive screening method and DNA sequencing. Nine different mutations were found, scattered from exon 1 to exon 5 of the IL2RG gene. Two of these mutations have been previously identified in other unrelated patients; the other seven are novel mutations that differ from all of the 95 already reported in the IL2RG mutation data base. In addition to describing novel mutations in the IL2RG gene, this study shows that the knowledge of the genetic defect and the use of an efficient, non-radioactive, and rapid screening approach have important implications for prenatal and postnatal diagnosis, carrier female identification, and possibly prenatal therapy.
authors.affiliation: Department of Paediatrics, Brescia, Italy.
authors.forename: G S
authors.initials: GS
authors.lastname: Wengler
authors.forename: S
authors.initials: S
authors.lastname: Giliani
authors.forename: M
authors.initials: M
authors.lastname: Fiorini
authors.forename: P
authors.initials: P
authors.lastname: Mella
authors.forename: E
authors.initials: E
authors.lastname: Mantuano
authors.forename: A
authors.initials: A
authors.lastname: Zanola
authors.forename: G
authors.initials: G
authors.lastname: Pollonini
authors.forename: M M
authors.initials: MM
authors.lastname: Eibl
authors.forename: A G
authors.initials: AG
authors.lastname: Ugazio
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: O
authors.initials: O
authors.lastname: Parolini
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods*; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D018807:Polymorphism, Single-Stranded Conformational; D011296:Prenatal Diagnosis / Q000379:methods; D018123:Receptors, Interleukin / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000235:genetics*
chemical_list: D018123:Receptors, Interleukin