title: Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases.
abstract: With the recent discovery of mutations in the STAT3 gene in the majority of patients with classic Hyper-IgE syndrome, it is now possible to make a molecular diagnosis in most of these cases. We have developed a PCR-based high-resolution DNA-melting assay to scan selected exons of the STAT3 gene for mutations responsible for Hyper-IgE syndrome, which is then followed by targeted sequencing. We scanned for mutations in 10 unrelated pedigrees, which include 16 patients with classic Hyper-IgE syndrome. These pedigrees include both sporadic and familial cases and their relatives, and we have found STAT3 mutations in all affected individuals. High-resolution melting analysis allows a single day turn-around time for mutation scanning and targeted sequencing of the STAT3 gene, which will greatly facilitate the rapid diagnosis of the Hyper-IgE syndrome, allowing prompt and appropriate therapy, prophylaxis, improved clinical outcome, and accurate genetic counseling.
authors.affiliation: Department of Pathology, Human Genetics, University of Utah School of Medicine and the Associated Regional and University Pathologists Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.
authors.forename: Attila
authors.initials: A
authors.lastname: Kumánovics
authors.forename: Carl T
authors.initials: CT
authors.lastname: Wittwer
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Pryor
authors.forename: Nancy H
authors.initials: NH
authors.lastname: Augustine
authors.forename: Mark F
authors.initials: MF
authors.lastname: Leppert
authors.forename: John C
authors.initials: JC
authors.lastname: Carey
authors.forename: Hans D
authors.initials: HD
authors.lastname: Ochs
authors.forename: Ralph J
authors.initials: RJ
authors.lastname: Wedgwood
authors.forename: Ralph J
authors.initials: RJ
authors.lastname: Faville
authors.forename: Paul G
authors.initials: PG
authors.lastname: Quie
authors.forename: Harry R
authors.initials: HR
authors.lastname: Hill
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods*; D005091:Exons; D005260:Female; D006801:Humans; D007589:Job Syndrome / Q000235:genetics / Q000276:immunology / Q000503:physiopathology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D050796:STAT3 Transcription Factor / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human