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June 23 2010

Error in a Study of the Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome

JAMA. 2010;303(24):2476-2477. doi:10.1001/jama.2010.827

To the Editor: We are writing to inform the readers and editors of JAMA about an error in the study “Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome,”1 published in the November 18, 2009, issue of JAMA, for which we were the principal investigators.

An error was brought to our attention by a staff member of the Human Gene Mutation Database at the Institute of Medical Genetics, Cardiff University, United Kingdom, who had noticed a discrepancy between the nucleotide and protein nomenclature in the SPRED1 mutation found in family S3, ie, c.42T>C; p.Tyr14X: if the mutation at the nucleotide level is c.42T>C, then the protein level should necessarily be p.=, whereas if the mutation at the protein level is p.Tyr14X, then the mutation at the nucleotide level should be either c.42T>A or c.42T>G but cannot be c.42T>C.

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