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

Genomics. 1997 Feb 15;40(1):48-54. doi: 10.1006/geno.1996.4541.


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 combination with previous reports, our results define a candidate region for the Pendred gene of 1.7 cM flanked by markers D7S501 and D7S692.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 7*
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Goiter / congenital
  • Goiter / genetics*
  • Haplotypes
  • Hearing Loss, Sensorineural / congenital
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Pedigree
  • Syndrome


  • Genetic Markers