A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss

<div>Sequence chromatograms, conservation analysis of WFS1 (a) Chromatograms showing the c.2530G &gt; T variant in the 5-generation Chinese family with LFSNHL. Partial sequence chromatograms of WFS1 gene from the affected individual IV-12, the normal-hearing individual IV-14 of the family, and a control. The red arrow indicates the location of the nucleotide changes at position 2530. (b) Protein alignment shows highly conserved nature of the p.Ala844 residue (indicated by a red arrow) in patients in our study and other 8 sequences from Homo sapiens, Pan troglodytes, Bos taurus, Canis familiaris, Rattus norvegicus, Mus musculus, Gallus gallus, and Danio rerio.</div>

BioMed Research International

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Figure 3

Figure 3: A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss