Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta
Author(s) -
Hao Zhang,
Hua Yue,
Chun Wang,
Weiwei Hu,
JieMei Gu,
Jinwei He,
WenZhen Fu,
Yun-qiu Hu,
Miao Li,
Zhenlin Zhang
Publication year - 2016
Publication title -
molecular medicine reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.727
H-Index - 56
eISSN - 1791-3004
pISSN - 1791-2997
DOI - 10.3892/mmr.2016.6095
Subject(s) - genetics , mutation , osteogenesis imperfecta , proband , molecular medicine , biology , gene , cell cycle , anatomy
Following the publication of this article, an interested reader drew to our attention that, in Table IV, we describe a c.1081C>T, p.Arg361X mutation in collagen type I, alpha 2 (COL1A2). Codon 361 is a glycine residue, not an arginine, according to the transcript, Z74616.1. We re‑examined the original data, and identified that the mutation c.1081C>T, p.Arg361X was of the collagen type I, alpha 1 COL1A1 gene, and furthermore, it was not novel in the mutation spectrum of COL1A1. Therefore, in the paper, the c.1081C>T, p.Arg361X mutation should have appeared in Table III (not Table IV), which described the clinical and genetic characteristics of probands with mutations in COL1A1, with an indication in the final column of the Table that it was not novel in the mutation spectrum of COL1A1. This error did not affect the major conclusions drawn in this study. We sincerely apologize for this mistake, and thank the reader of our article who drew this matter to our attention. [the original article was published in the Molecular Medicine Reports 14: 4918‑4926, 2016; DOI: 10.3892/mmr.2016.5835].
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