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Related Experiment Videos

Mutational spectrum in Usher syndrome type II.

X M Ouyang1, D Yan, J F Hejtmancik

  • 1Department of Otolaryngology, University of Miami, Miami, FL 33136, USA.

Clinical Genetics
|March 18, 2004
PubMed
Summary

The USH2A gene mutation screening in Usher syndrome type II identified the 2299delG mutation as the most common cause. This study found USH2A mutations in 35% of patients with this genetic disorder.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Audiology

Background:

  • Usher syndrome type II is an inherited disorder causing hearing loss and retinitis pigmentosa (RP).
  • The USH2A gene is a primary genetic cause of Usher syndrome type II.
  • Understanding USH2A mutation frequency is crucial for genetic diagnosis and counseling.

Purpose of the Study:

  • To determine the frequency and spectrum of USH2A gene mutations in patients with Usher syndrome type II.
  • To identify the most prevalent mutations within the USH2A gene.
  • To characterize novel mutations and polymorphisms in the USH2A gene.

Main Methods:

  • Mutation screening of the USH2A gene in 88 probands diagnosed with Usher syndrome type II.
  • Identification and characterization of pathogenic mutations and polymorphisms.

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  • Genotyping to determine homozygous and compound heterozygous states.

    • Main Results:

    • USH2A mutations were identified in 35% (31/88) of the probands.
    • The 2299delG mutation was the most frequent, accounting for 16.5% of alleles and 77.5% of pathogenic alleles.
    • Six distinct mutations and eight polymorphisms (five novel) were identified, including a new missense mutation (N357T).

    Conclusions:

    • USH2A mutations are a significant cause of Usher syndrome type II.
    • The 2299delG mutation is the predominant mutation in the USH2A gene for this condition.
    • Further genetic studies are warranted to fully elucidate the role of USH2A in Usher syndrome type II.