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Comment & Response |

Error in Complementary DNA Nomenclature in “Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa”

Roshini S. Abraham, PhD1; Lawrence E. Gibson, MD2
[+] Author Affiliations
1Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota
2Department of Dermatology, Mayo Clinic, Rochester, Minnesota
JAMA Dermatol. 2016;152(9):1065. doi:10.1001/jamadermatol.2016.2595.
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To the Editor The authors would like to notify the editors and readers of an inadvertent error recently noted in the description of the CECR1 mutations provided in our report.1 The genetic testing was performed as a clinical test at a reference laboratory and the complementary DNA (cDNA) nomenclature provided in the clinical report was used in the report. It was recently brought to our attention that the transcript used by the clinical reference laboratory NM_00128227.1 incorrectly listed the cDNA position as c.1159C>A, p.N328K. Based on this information, we reviewed the various CECR1 transcripts in Alamut Visual mutation analysis software (Interactive Biosoftware), version 2.7.2, and verified the accurate numbering of the variants. The correct numbering for the CECR1 gene mutations reported on the 2 patients are as follows (now including the isoform):

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Correspondence

November 1, 2015
Tania M.  Gonzalez Santiago, MD; Andrey Zavialov, PhD; Janna Saarela, MD, PhD; Mikko Seppanen, MD, PhD; Ann M. Reed, MD; Roshini S. Abraham, PhD; Lawrence E. Gibson, MD
1Department of Dermatology, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota
2Turku Center for Biotechnology, University of Turku, Turku, Finland
3Institute for Molecular Medicine Finland, University of Helsinki, Helsinki
4Immunodeficiency Unit, Inflammation Center, Helsinki University, Helsinki University Hospital, Helsinki, Finland
5Rheumatology Division, Department of Internal Medicine and Pediatrics, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota
6Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota
JAMA Dermatol. 2015;151(11):1230-1234. doi:10.1001/jamadermatol.2015.1635.
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