Immunohistochemistry and reverse transcriptase-polymerase chain reaction as methods for diagnostic determination of Usher syndrome type IIa

Edward Cohn, Gautam Bhattacharya, Nicole Pearsall, Igor Shendrik, William Kimberling, Dominic Cosgrove

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Objectives/Hypothesis: Patients having null mutations in the USH2A gene do not produce usherin and therefore are not positive for immunohistochemical staining of the usherin protein. Thus, immunostaining for usherin can serve as a reliable diagnostic tool for Usher syndrome type IIa. Study Design: Prospective. Methods: Immunohistochemical staining for usherin was carried out in basement membrane of minor salivary gland tissue from subjects with confirmed Usher syndrome type IIa and from archival minor salivary gland tissue from patients without Usher syndrome as control samples. Quantitative usherin messenger RNA analysis was performed using minor salivary gland biopsy tissue. Results: Five subjects with Usher syndrome type IIa had no immunostaining in minor salivary gland tissue, whereas control minor salivary gland tissue did stain with usherin antibody. No usherin RNA was detected in biopsy specimens from patients with confirmed Usher syndrome IIa. Conclusion: The feasibility was confirmed of diagnosing Usher syndrome type IIa using purified usherin antibody in subjects having two null USH2A mutations.

Original languageEnglish (US)
Pages (from-to)1310-1314
Number of pages5
JournalLaryngoscope
Volume114
Issue number7
DOIs
StatePublished - Jul 1 2004

Keywords

  • Basement membrane
  • Immunodiagnostics
  • Usher syndrome

ASJC Scopus subject areas

  • Otorhinolaryngology

Fingerprint Dive into the research topics of 'Immunohistochemistry and reverse transcriptase-polymerase chain reaction as methods for diagnostic determination of Usher syndrome type IIa'. Together they form a unique fingerprint.

  • Cite this