The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.

  title={The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.},
  author={P. -A. Coucke and Guy Van Camp and Osman Demirhan and Y Kabakkaya and Wendy Balemans and Peter Van Hauwe and T Van Agtmael and Richard J. H. Smith and Agnete Parving and C H Bolder and Cor W. R. J. Cremers and Patrick J. Willems},
  volume={40 1},
Pendred syndrome is an autosomal recessive disorder characterized by goiter and congenital deafness. The primary defect is not yet known, although the gene causing Pendred syndrome has been localized very recently on chromosome 7q, a region that also contains a gene responsible for nonsyndromal hearing loss (DFNB4). We confirmed linkage to this chromosome 7 region in five Pendred families originating from different ethnic groups, with a highest cumulative lod score of 8.26 for marker D7S501. In… CONTINUE READING

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