• Korean Journal of Veterinary Research
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• v.53 no.4
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• pp.265-267
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• 2013

A 3-month-old, intact male French bulldog was suspected of deafness. The dog was irresponsive to environmental noises generated out of sight, but normal responses were noted for visual stimuli. No abnormalities were observed on the neurological, otoscopic, radiographic, and blood examinations. To diagnose the apparent deafness, brainstem auditory evoked potential (BAEP) was recorded in the presented dog together with a normal dog. While the BAEP from the control dog showed a normal wave consisting of 5 peaks, absence of all peaks was noted in the suspected deaf dog. Therefore the dog was definitively diagnosed as bilaterally congenital sensorineural deafness.

• Journal of Veterinary Clinics
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• v.25 no.6
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• pp.506-509
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• 2008

A 2-month-old, intact female white Bull Terrier presented because of suspected deafness. The coat color was predominantly white and the iris color, of both eyes, was brown. The dog did not respond to the owner's voice when the sound stimuli were presented outside of the visual field; however, the dog responded to visual gestures. The other physical, neurological, otoscopic, radiographic, and blood examinations were unremarkable. To assess the apparent deafness, brainstem auditory evoked responses (BAER) were recorded and analyzed in the dog with suspected deafness as well as a normal littermate. The response in the normal littermate consisted of a series of five wave peaks (I-V) with decreased amplitude and prolonged latency as the stimulus intensity decreased. The BAER from the dog suspected of deafness appeared as a flat line and did not reveal identifiable peaks that corresponded to those found in the normal littermate. Thus, congenital, sensorineural and bilateral deafness was confirmed by the BAER.

• Journal of Veterinary Clinics
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• v.31 no.2
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• pp.129-132
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• 2014

A 4-year-old, intact female Border Collie was presented for evaluation of hearing impairment. Clinical, neurological, otoscopic and magnetic resonance imaging examinations were carried out to determine the cause of hearing loss, but no remarkable change was found. Then, brainstem auditory-evoked response test was performed to assess hearing loss, and the dog had a bilateral sensorineural deafness was revealed. Since possible causes of acquired hearing loss were ruled out by several examinations and history taking, bilateral later-onset deafness was suspected to be genetic and not congenital. This report suggested the possibility that dogs had inherited later-onset sensorineural deafness.

• Childhood Kidney Diseases
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• v.26 no.1
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• pp.40-45
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• 2022

Purpose: Chronic kidney disease (CKD) has various underlying causes in children. Identification of the underlying causes of CKD is important. Genetic causes comprise a significant proportion of pediatric CKD cases. Methods: In this study, we performed whole-exome sequencing (WES) to identify genetic causes of pediatric CKD. From January to June 2021, WES was performed using samples from pediatric patients with CKD of unclear etiology. Results: Genetic causes were investigated using WES in 37 patients (17 males) with pediatric CKD stages 1 (n=5), 2 (n=7), 3 (n=2), 4 (n=2), and 5 (n=21). The underlying diseases were focal segmental glomerulosclerosis (n=9), congenital anomalies of the kidney and urinary tract including reflux nephropathy (n=8), other glomerulopathies (n=7), unknown etiology (n=6), and others (n=7). WES identified genetic causes of CKD in 12 of the 37 patients (32.4%). Genetic defects were discovered in the COL4A4 (n=2), WT1 (n=2), ACTN4, CEP290, COL4A3, CUBN, GATA3, LAMA5, NUP107, and PAX2 genes. WT1 defects were found in patients whose pathologic diagnosis was membranoproliferative glomerulonephritis, and identification of CUBN defects led to discontinuation of immunosuppressive agents. Genetic diagnosis confirmed the clinical diagnosis of hypoparathyroidism, sensorineural deafness, and renal disease; Alport syndrome; and Joubert syndrome in three of the patients with CKD of unknown etiology (COL4A4 [n=2], CUBN [n=1]). Extrarenal symptoms were considered phenotypic presentations of WT1, PAX2, and CEP290 defects. Conclusions: WES provided a genetic diagnosis that confirmed the clinical diagnosis in a significant proportion (32.4%) of patients with pediatric CKD.

• Molecules and Cells
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• v.38 no.9
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• pp.781-788
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• 2015

Mutations of MYO15A are generally known to cause severe to profound hearing loss throughout all frequencies. Here, we found two novel MYO15A mutations, c.3871C>T (p.L1291F) and c.5835T>G (p.Y1945X) in an affected individual carrying congenital profound sensorineural hearing loss (SNHL) through targeted resequencing of 134 known deafness genes. The variant, p.L1291F and p.Y1945X, resided in the myosin motor and IQ2 domains, respectively. The p.L1291F variant was predicted to affect the structure of the actin-binding site from three-dimensional protein modeling, thereby interfering with the correct interaction between actin and myosin. From the literature analysis, mutations in the N-terminal domain were more frequently associated with residual hearing at low frequencies than mutations in the other regions of this gene. Therefore we suggest a hypothetical genotype-phenotype correlation whereby MYO15A mutations that affect domains other than the N-terminal domain, lead to profound SNHL throughout all frequencies and mutations that affect the N-terminal domain, result in residual hearing at low frequencies. This genotype-phenotype correlation suggests that preservation of residual hearing during auditory rehabilitation like cochlear implantation should be intended for those who carry mutations in the N-terminal domain and that individuals with mutations elsewhere in MYO15A require early cochlear implantation to timely initiate speech development.