Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases

J Mol Diagn. 2010 Mar;12(2):213-9. doi: 10.2353/jmoldx.2010.090080. Epub 2010 Jan 21.

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.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis / methods*
  • Exons
  • Female
  • Humans
  • Job Syndrome* / genetics
  • Job Syndrome* / immunology
  • Job Syndrome* / physiopathology
  • Male
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • STAT3 Transcription Factor / genetics*
  • Sequence Analysis, DNA / methods

Substances

  • STAT3 Transcription Factor
  • STAT3 protein, human