Question:medium
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: Use the name as a clue. Pendred syndrome is named after the same root as its causative protein pendrin. The disease combines sensorineural deafness with goitre, so the answer is pendrin.
Step 2: Understand the protein. Pendrin is an anion exchanger encoded by SLC26A4 (the PDS gene). It transports iodide and chloride or bicarbonate, and is active in the thyroid follicular cells and the inner ear. Loss of function explains both the goitre and the hearing loss.
Step 3: Genetics worth recalling. The PDS gene maps to chromosome 7q31 and the disorder follows autosomal recessive inheritance, so two defective copies are required for disease.
Step 4: Reject the decoys. Fibrillin defects give Marfan syndrome, reticulin is a stromal fiber rather than a disease gene product, and bartillin is not associated with this syndrome.
\[\boxed{\text{Pendrin}}\]
Step 2: Understand the protein. Pendrin is an anion exchanger encoded by SLC26A4 (the PDS gene). It transports iodide and chloride or bicarbonate, and is active in the thyroid follicular cells and the inner ear. Loss of function explains both the goitre and the hearing loss.
Step 3: Genetics worth recalling. The PDS gene maps to chromosome 7q31 and the disorder follows autosomal recessive inheritance, so two defective copies are required for disease.
Step 4: Reject the decoys. Fibrillin defects give Marfan syndrome, reticulin is a stromal fiber rather than a disease gene product, and bartillin is not associated with this syndrome.
\[\boxed{\text{Pendrin}}\]
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