PMC9623256_01
Timeline with relevant episodes in the case report presented.
fgene-13-998898-g001.jpg
PMC9623256_03_fgene-13-998898-g001.jpg
F1
Different variants were detected (Table 1 and Supplementary Figure S1) by VariantStudio and DNAnexus software applications, and only one of them was in silico predicted as pathogenic. Sanger sequencing confirmed the presence of a heterozygous c.2051C>T variant in the patient's WFS1 gene but not in either of her parents (Supplementary Figure S1). After Sanger sequencing validation, an exhaustive analysis with BLAST  (NCBI) showed that the sequence corresponded instead to the FER tyrosine kinase (FER) pseudogene in chromosome 5 (NG_011445.2) (Supplementary Figure S1), which presents more than 90% homology with the GJA1's sequence.
(A) Auditory brainstem potential performed at an age of 1 year, showing the potentials performed in both the right (R) and left (L) ears at different dB HL (90, 85, and 80) levels. (B) Auditory brainstem potential performed at an age of 13 years using the implanted electrode in the right ear. The V-wave curve (v) recorded from the electrodes 1, 2, 4, and 6 of the cochlear implant in the right ear (R). (C). Pre- and post-implant audiometries showing the age when performed. Orange = right ear and sky blue = left ear. (D). Evolution of the auditory and speech perception tests over patient age. The panel shows the percentage of word discrimination at 60 dB (bluish green-dashed line and dots), the percentage of consonant identification (the orange solid line and dots), and the percentage of vowel identification at 60 dB (the sky blue dotted line and dots) at tested ages.
fgene-13-998898-g002.jpg
PMC9623256_03_fgene-13-998898-g002.jpg
F2
Auditory perception and speech tests improved significantly after the placement of both cochlear implants (Figure 2D). V-wave curves were recorded at electrodes 6, 11, 16, and 22 at a level between 140 and 167 CL, showing good morphology and replicability, which suggests good neural conduction from the auditory nerve to the anatomical generator (the inferior colliculus) of the brainstem (Figure 2B).
PMC9623256_02
PMC9623256_03
Timeline with relevant episodes in the case report presented.
fgene-13-998898-g001.jpg
PMC9623256_03_fgene-13-998898-g001.jpg
F1
Different variants were detected (Table 1 and Supplementary Figure S1) by VariantStudio and DNAnexus software applications, and only one of them was in silico predicted as pathogenic. Sanger sequencing confirmed the presence of a heterozygous c.2051C>T variant in the patient's WFS1 gene but not in either of her parents (Supplementary Figure S1). After Sanger sequencing validation, an exhaustive analysis with BLAST  (NCBI) showed that the sequence corresponded instead to the FER tyrosine kinase (FER) pseudogene in chromosome 5 (NG_011445.2) (Supplementary Figure S1), which presents more than 90% homology with the GJA1's sequence.
(A) Auditory brainstem potential performed at an age of 1 year, showing the potentials performed in both the right (R) and left (L) ears at different dB HL (90, 85, and 80) levels. (B) Auditory brainstem potential performed at an age of 13 years using the implanted electrode in the right ear. The V-wave curve (v) recorded from the electrodes 1, 2, 4, and 6 of the cochlear implant in the right ear (R). (C). Pre- and post-implant audiometries showing the age when performed. Orange = right ear and sky blue = left ear. (D). Evolution of the auditory and speech perception tests over patient age. The panel shows the percentage of word discrimination at 60 dB (bluish green-dashed line and dots), the percentage of consonant identification (the orange solid line and dots), and the percentage of vowel identification at 60 dB (the sky blue dotted line and dots) at tested ages.
fgene-13-998898-g002.jpg
PMC9623256_03_fgene-13-998898-g002.jpg
F2
Auditory perception and speech tests improved significantly after the placement of both cochlear implants (Figure 2D). V-wave curves were recorded at electrodes 6, 11, 16, and 22 at a level between 140 and 167 CL, showing good morphology and replicability, which suggests good neural conduction from the auditory nerve to the anatomical generator (the inferior colliculus) of the brainstem (Figure 2B).
(A) Fundoscopy showing optic nerve pallor and bilateral atrophy. (B) Retinal nerve fiber layer (RNFL) analysis by time-domain optical coherence tomography of both eyes at 12.3 years of age using Cirrus HD-OCT and SW Ver 11.5.254532 (Carl Zeiss Meditec), showing from the top to bottom the RNFL thickness maps and the nasal (N) to temporal (T) quadrants' extracted tomographs. Graphical representation of the RNFL thickness from all quadrants is also shown at the right of the images. (C) RNFL thickness (in micrometers) in function of the patient's age showing linear regression (black solid line), 95% confidence interval (gray area), and prediction outside measured ages (blue dotted line). The Pearson correlation coefficient and p-value are shown in each panel. RE = right eye; LE = left eye; microm = micrometers.
fgene-13-998898-g003.jpg
PMC9623256_03_fgene-13-998898-g003.jpg
F3
The patient's initial eye examination performed at the age of 8.2 years included visual acuity (VA), color vision test, biomicroscopy, funduscopy, visual field, optical coherence tomography (OCT), and visual-evoked potentials (Figure 3).