Nat. Genet. 39, 359–365 (2007); published online 4 February 2007; corrected after print 26 June 2008

In the version of this article initially published, the nucleotide positions of the mutations in the LEPRE1 cDNA and genomic DNA sequence in Table 1, Supplementary Table 1 and Supplementary Figure 1 were incorrectly numbered relative to the first nucleotide of exon 1 rather than the first nucleotide of the LEPRE1 start codon. These errors have been corrected in the HTML and PDF versions of the article.