This article was originally published as Mutation in Brief #465 (print citation: Vol. 18, No. 6, page 548, 2001). Several errors were included in the original version of the article relating to the names of mutations. Here we present the corrected names of the five novel mutations in PDS that were described (nucleotide changes shown in parentheses): X781W/X823 (2343A>G), T132I (395C>T), splice acceptor (IVS2-2A>G), Y556H (1666T>C), and FS135/X179 (406del5). The errors have been corrected throughout the text by the authors. The text has been slightly reformatted by the publisher to accommodate revision and repagination.
Pendred syndrome is an autosomal-recessive disorder characterized by congenital sensorineural hearing loss combined with goiter. This disorder may account for up to 10% of cases of hereditary deafness. The disease gene (PDS/SLC26A4) has been mapped to chromosome 7q22-q31 and encodes a chloride-iodide transport protein. Mutations in this gene are also a cause of non-syndromic autosomal recessive hearing impairment (DFNB4). We have analyzed the PDS/SLC26A4 gene in Spanish and Italian families and we have detected five novel mutations (X781W, T132I, IVS2-2A>G, Y556H and 406del5). © 2002 Wiley-Liss, Inc.