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Pendred syndrome

MIM.274600 7q31

Thursday 12 January 2006

Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter).

Synopsis

- congenital neurosensory deafness
- vestibular function defect
- cochlear malformation
- mental retardation

- euthyroid or compensated hypothyroidism
- goiter
- thyroid hormone organification defect
- thyroid carcinomas

Etiology

- Pendred syndrome is caused by mutation in the SLC26A4 gene (MIM.605646)

  • germline mutations in SLC26A4 also cause nonsyndromic deafness DFNB4 type (MIM.600791) as well as enlarged vestibular aqueduct syndrome (EVA) (MIM.603545).