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June 23 2010

Error in Mutation Classification and Data in: Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome

JAMA. 2010;303(24):2477. doi:10.1001/jama.2010.828

Error in Mutation Classification and Data: In the Original Contribution entitled “Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome,” published in the November 18, 2009, issue of JAMA (2009;302[19]:2111-2118), an error occurred in the classification of the SPRED1 mutation. The mutation was correctly named at the nucleotide level as “c.42T>C” but was mislabeled at the protein level. This error affects numbers, percentages, and associated confidence intervals slightly in several paragraphs, Tables and Figures, and online-only supplementary content, although none of these changes alter any of the conclusions. After additional review of all SPRED1 mutations described in the article, we renamed 2 mutations as duplications instead of insertions: c.326_329dup instead of 329_330insCTAG and c.1204_1207dup instead of 1207_1208insTTGC. These changes do not alter their interpretation as pathogenic loss-of-function mutations. The corrected article was replaced online on June 23, 2010, and the supplemental materials were corrected and replaced on May 19, 2010. An accompanying letter describes the discovery and correction of this misclassification fully.