THE GENE FOR PENDRED SYNDROME IS LOCATED BETWEEN D7S501 AND D7S692 INA 1.7-CM REGION ON CHROMOSOME 7Q

Pendred syndrome is an autosomal recessive disorder characterized by g oiter and congenital deafness. The primary defect is not yet known, al though the gene causing Pendred syndrome has been localized very recen tly on chromosome 7q, a region that also contains a gene responsible f or nonsyndromal hearing loss (DFNB4). We confirmed linkage to this chr omosome 7 region in five Pendred families originating from different e thnic groups, with a highest cumulative led score of 8.26 for marker D 7S501. In combination with previous reports, our results define a cand idate region for the Pendred gene of 1.7 cM flanked by markers D7S501 and D7S692. (C) 1997 Academic Press.