In the article “Familial occurrence and heritable connective tissue disorders in cervical artery dissection” by S. Debette et al.,1 there is an omission in table 4. The “Gene with mutation” for Patient 1 (ID: I) should have read “COL3A1, NM_000090.3:c.1618G>A (p.Gly540Arg)” rather than “COL3A1, p.Gly540Arg” as originally published. The authors regret the omission. In addition, the authors would like to clarify the following: Patient 2 (ID: II) had a G to A transition (NM_000090.3:c.2212G>A) resulting in a p.Gly738Ser substitution according to the HGVS nomenclature, corresponding to a Gly571Ser substitution in the legacy amino acid numbering for type III collagen. The HGVS codon number is obtained by adding 167 amino acids to the legacy number. The authors regret that only the legacy numbering had previously been mentioned.
REFERENCE
- 1.Debette S, Goeggel Simonetti B, Schilling S, et al. Familial occurrence and heritable connective tissue disorders in cervical artery dissection. Neurology 2014;83:2023–2031. [DOI] [PMC free article] [PubMed] [Google Scholar]