DFNB4 Nonsyndromic Hearing Loss and Deafness

Mutations in the SLC26A4 gene have been associated with two autosomal recessive disorders, Pendred syndrome and DFNB4 non-syndromic hearing loss. Pendred syndrome is the most common form of syndromic deafness, accounting for approximately 5-10% of hereditary hearing loss. The Pendred syndrome phenotype includes bilateral sensorineural hearing loss, which is usually severe to profound at birth, temporal bone abnormalities, vestibular abnormalities, and thyroid dysfunction, which usually leads to goiter formation in late childhood to early adulthood. The degree of hearing loss and thyroid disease phenotype is highly variable within families with Pendred syndrome. DFNB4 non-syndromic hearing loss is characterized by enlarged vestibular aqueduct and temporal bone abnormalities, without the thyroid phenotype.

Tests Available

Forms and Documents

Test Details

SLC26A4
  • Confirmation of a clinical diagnosis
  • Differential diagnosis from other types of hearing loss
  • Carrier testing in siblings or other relatives
  • Capillary Sequencing

Ordering

572
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 241.1 Nontoxic multinodular goiter Multinodular goiter (nontoxic)
  • 389.1 Sensorineural hearing loss, Perceptive hearing loss or deafness
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References

  1. Smith, R. and Van Camp, G. (Updated April 2, 2009). Pendred syndrome/DFNB4. In: GeneReviews at GeneTests: http://www.genetests.org.
  2. Napiontek, U. et al. (2004) J Clin Endocrinol Metab 89(11):5347-5351.
  3. Anwar, S. et al. (2009) J Hum Genet 54(5):266-270.
  4. Yang, T. et al. (2007) Am J Hum Genet 80:1055-1063.
  5. Pera, A. et al. (2008) Eur J Hum Genet 16:888-896.
  6. Campbell, C. et al. (2001) Hum Mutat 17:403-411.
  7. Tsukamoto, K. et al. (2003) Eur J Hum Genet 11:916-922.