title: Prenatal diagnosis of RAG-deficient Omenn syndrome.
abstract: Mutations in recombination activating genes (RAG) 1 and 2 have been found to cause Omenn syndrome (OS), a severe combined immunodeficiency (SCID) with a peculiar phenotype. Here we report the prenatal diagnosis performed in three OS patients. Mutations were detected in the probands as well as in their parents by genomic sequencing of the complete coding regions of both RAG 1 and RAG 2, which are contained in a single exon. All the three probands had RAG 1 mutations in both alleles, at least one of which was a missense substitution. Of the three fetuses tested, one had a wild type sequence on both alleles, while the other two had one mutated allele. None of the three patients were predicted to be affected and this was confirmed at birth. Detection of RAG genes mutations on fetal samples by direct sequencing is an easy and effective way to investigate fetuses from families affected with RAG-dependent SCID and OS families affected by RAG-dependent SCID and OS.
authors.affiliation: Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy. villa@itba.mi.cnr.it
authors.forename: A
authors.initials: A
authors.lastname: Villa
authors.forename: F
authors.initials: F
authors.lastname: Bozzi
authors.forename: C
authors.initials: C
authors.lastname: Sobacchi
authors.forename: D
authors.initials: D
authors.lastname: Strina
authors.forename: A
authors.initials: A
authors.lastname: Fasth
authors.forename: S
authors.initials: S
authors.lastname: Pasic
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: P
authors.initials: P
authors.lastname: Vezzoni
mesh_terms: D000649:Amniocentesis; D001483:Base Sequence; D015193:Chorionic Villi Sampling; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005865:Gestational Age; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; C064655:V(D)J recombination activating protein 2; C064658:RAG-1 protein