title: Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis.
abstract: Mutations in the common gamma chain (gamma c or IL2RG) of the interleukin-2, -4, -7, -9 and -15 receptors have been found to cause X-linked severe combined immunodeficiency (SCIDX1). We report here on the mutations identified in a further ten families. Two of the mutations identified have occurred twice in unrelated families, indicating two possible mutational hotspots. Seven of the mutations, which were identified by single-strand conformational polymorphism (SSCP) analysis, are point mutations, and the eighth is a small deletion. We also report on the first use of assays based on these mutations within IL2RG for unambiguous carrier determination. The consequences for the gamma c proteins produced as a result of these mutations are discussed.
authors.affiliation: Molecular Immunology Unit, Institute of Child Health, London, UK.
authors.forename: P A
authors.initials: PA
authors.lastname: Clark
authors.forename: T
authors.initials: T
authors.lastname: Lester
authors.forename: S
authors.initials: S
authors.lastname: Genet
authors.forename: A M
authors.initials: AM
authors.lastname: Jones
authors.forename: R
authors.initials: R
authors.lastname: Hendriks
authors.forename: R J
authors.initials: RJ
authors.lastname: Levinsky
authors.forename: C
authors.initials: C
authors.lastname: Kinnon
mesh_terms: D001483:Base Sequence; D008040:Genetic Linkage; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D015375:Receptors, Interleukin-2 / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000235:genetics*; D014960:X Chromosome
chemical_list: D015375:Receptors, Interleukin-2