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. 2016 Nov 12;136(1):107–118. doi: 10.1007/s00439-016-1746-7

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© The Author(s) 2016

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided 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.

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Fig. 5 — Clan members lacking the recessive CLDN14 [c.488C>T; p.(Ala163Val)] variant do not present with the characteristic steeply sloping hearing phenotype, exhibiting a different age of onset and hearing threshold progression a Profound, flat sensorineural hearing loss with an unknown etiology at age 63 (PID IV-4), b PID V-5 (age: 53) presents with borderline hearing thresholds, c PID V-7 (age: 58) presents with mild hearing loss with a diagnosis of Meniere’s disease, d at age 39, PID VI-3 presents with mild hearing loss, and e a heterozygous CLDN14 [c.488C>T; p.(Ala163Val)] carrier (PID V-4) exhibits mild hearing loss at age 60. Yellow shaded area indicates range of normal hearing. Hearing thresholds are measured in decibels hearing level (dB HL), X = left ear (air conduction), O = right ear (air conduction)