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. Author manuscript; available in PMC: 2019 Apr 3.
Published in final edited form as: Genet Med. 2018 Sep 24;21(4):948–954. doi: 10.1038/s41436-018-0285-0

Figure 1.

Figure 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 non-syndromic hearing loss (NSHL) and non-filled 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 mutation 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.