Question:
Pendred syndrome is due to mutation of -
Pendred syndrome is due to mutation of -
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Pendred syndrome = pendrin (SLC26A4); deafness plus goitre.
Updated On: Jun 24, 2026
- Bartillin
- Pendrin
- Fibrillin
- Reticulin
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The Correct Option is B
Solution and Explanation
Step 1: Define the syndrome. Pendred syndrome is a genetic disorder causing congenital bilateral sensorineural hearing loss together with goitre and occasional hypothyroidism.
Step 2: Identify the gene and protein. It is caused by mutations in the PDS gene (SLC26A4), which codes for the protein pendrin, an anion transporter of the solute carrier family 26. So the mutated protein is pendrin, option b.
Step 3: Inheritance and location. The gene lies on the long arm of chromosome 7 (7q31) and the condition is inherited in an autosomal recessive pattern. Pendrin dysfunction affects iodide transport in the thyroid and ion handling in the inner ear, explaining the combined thyroid and hearing features.
Step 4: Why the others are wrong. Fibrillin mutations cause Marfan syndrome, reticulin is a connective tissue fiber and not the cause here, and bartillin is not the relevant protein. Therefore pendrin is correct.
Step 2: Identify the gene and protein. It is caused by mutations in the PDS gene (SLC26A4), which codes for the protein pendrin, an anion transporter of the solute carrier family 26. So the mutated protein is pendrin, option b.
Step 3: Inheritance and location. The gene lies on the long arm of chromosome 7 (7q31) and the condition is inherited in an autosomal recessive pattern. Pendrin dysfunction affects iodide transport in the thyroid and ion handling in the inner ear, explaining the combined thyroid and hearing features.
Step 4: Why the others are wrong. Fibrillin mutations cause Marfan syndrome, reticulin is a connective tissue fiber and not the cause here, and bartillin is not the relevant protein. Therefore pendrin is correct.
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