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. 2018 Sep 24;21(4):948–954. doi: 10.1038/s41436-018-0285-0

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© The Author(s) 2018

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — a Family pedigree showing the segregation of the c.652-2A>C variant in COL11A1. Red and bold indicates the mutant allele. Circles and squares represent females and males, respectively. Filled symbols denote individuals with nonsyndromic hearing loss (NSHL) and nonfilled symbols show individuals with normal hearing. b Age-related typical audiograms (ARTA). Binaural mean air conduction thresholds (dB HL) are presented for the ages 10–60 years. c Parametric linkage analysis plot of chromosome 1. d Representative chromatograms from wild-type and mutant sequences. e Gel electrophoresis of wild-type COL11A1 exon 5, c.652-2A>C pathogenic variant, and the empty pET01 vector. The inclusion of exon 5 results in a 372-bp product and its exclusion results in a 234-bp band. Sequence chromatograms show read through at each exon junction. Results shown from COS7 experiments. LOD logarithm of the odds.