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. Author manuscript; available in PMC: 2012 Jan 1.
Published in final edited form as: J Hum Genet. 2011 Jun 2;56(7):534–540. doi: 10.1038/jhg.2011.55

Figure 3.

Figure 3

Family PKDF1132. (a) Pedigree of family PKDF1132 with six affected individuals present in three sibships. Circles indicate females and fully shaded squares represent males with hearing loss; and the central dot in a female symbol indicates a carrier of a X-linked mutation. (b–c) Representative pure-tone air and bone conduction audiometric data of affected individual IV:4 (16 years old male) along with a normal hearing subject, III:2 (49 years old female). Severe to profound mixed hearing loss in both ears was observed in the affected individuals of family PKDF536. (d) Temporal bone computed tomography (CT) of individual IV:4. Basal turn of the cochlea was incompletely separated from the internal auditory canal (IAC), and seemed to be a continuation of the IAC. Typically, a bulbous dilation of the lateral end of the IAC (arrow) was identified. (e) Sequence chromatogram of pathogenic variant, c.341G>A (p.W114X), along with a homozygous wild type allele.