Pendred syndrome due to mutation of ?
Correct Answer: Pendrin
Description: Ans. is `b' i.e., Pendrin Pendred syndrome or Pendred disease :? Pendred syndrome or Pendred disease is a genetic disorder leading to congenital bilateral (both sides) sensorineural hearing loss and goitre with occasional hypothyroidism. It has been linked to mutations in the PDSgene, which codes for the pendrin protein (solute carrier family 26, member 4, SLC26A4). The gene is located on the long arm of chromosome 7 (7q31). It is an autosomal recessive disorder.
Category:
Pathology
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