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Unusual phenotype in 35delG mutation: a case report.

Cem Yeral1, Lutfu Seneldir2, Arzu Hediye Karakoc3

  • 1Faculty of Health Sciences, Department of Audiology, İstanbul University-Cerrahpaşa, Istanbul, Türkiye. cem.yeral@gmail.com.

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Summary

The GJB2 gene

Keywords:
35delG mutationGJB2Genetic hearing lossUnilateral progressive hearing loss

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Area of Science:

  • Genetics
  • Otolaryngology
  • Molecular Biology

Background:

  • GJB2 gene mutations, encoding connexin 26, are a primary cause of autosomal recessive nonsyndromic hearing loss.
  • The 35delG mutation is a common GJB2 mutation, typically causing prelingual, bilateral, nonprogressive sensorineural hearing loss.

Observation:

  • An 18-year-old Turkish female presented with a heterozygous 35delG mutation.
  • This patient exhibited postlingual, unilateral, progressive, and fluctuating profound-sloping sensorineural hearing loss.

Findings:

  • The observed phenotype significantly differed from the typical presentation associated with the 35delG mutation.
  • This case highlights variability in GJB2 mutation expression.

Implications:

  • The 35delG mutation's phenotypic expression in hearing loss can be atypical.
  • Audiologic manifestations of GJB2 mutations may vary, requiring comprehensive diagnostic approaches.