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

The Laryngoscope
Edward CohnDominic Cosgrove

Abstract

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. Prospective. 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. 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. The feasibility was confirmed of diagnosing Usher syndrome type IIa using purified usherin antibody in subjects having two null USH2A mutations.

References

Dec 1, 1996·Genes & Development·D CosgroveG C Samuelson
Apr 14, 1999·Kidney International·F T van der LoopH J Smeets
Jul 26, 2000·European Journal of Human Genetics : EJHG·B DreyerO Nilssen
Apr 20, 2001·Experimental Eye Research·B P LeroyS S Bhattacharya
Nov 9, 2001·Annual Review of Genetics·C PetitJ P Hardelin
Nov 16, 2002·Hearing Research·Nicole PearsallWilliam Kimberling

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Citations

Jun 1, 2010·Human Mutation·Christel VachéAnne-Françoise Roux
Mar 13, 2014·Experimental Eye Research·Eva LenassiAndrew R Webster

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