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COL4A3 mutations cause focal segmental glomerulosclerosis

Year: 2015

Type: article

Abstract: [J. Mol. Cell Biol. 6, 498–505; doi: 10.1093/jmcb/mju040] In this article, there were two annotation mistakes about the precise deletion position in COL4A3 and COL4A4 mutations in ARAS patients (summarized in Figure 2E). This was caused by a bug in the old version (v3.4) of Variant Caller for Ion Torrent. The variant in family AP5 should be described as ‘chr2:227942771delG’, instead of ‘chr:227942770delG’, in the COL4A4 gene. The variant identified in family AP1 should be described as ‘chr2:228172490delA’, instead of ‘chr:228172489delA’, in the COL4A3 gene. The corrected Figure 2E is shown as below. The results and conclusions of the article are not affected, and the authors apologize for these errors. (E) Summary of the clinical characteristics of the five ARAS patients with COL4A3/COL4A4 mutations. HT, hearing test; EE, eye examination; SH, sensorineural hearing loss; LA, lens abnormality; MD, macular degeneration; neg, no mutation was found; n.a., not available.

Source: Journal of Molecular Cell Biology

DOI: 10.1093/jmcb/mjv023