Concomitant imaging and genetic findings in children with unilateral sensorineural hearing loss

2017 ◽  
Vol 131 (8) ◽  
pp. 688-695 ◽  
Author(s):  
M Gruber ◽  
C Brown ◽  
M Mahadevan ◽  
M Neeff
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
High Rate ◽  
Homozygous Mutation ◽  
Imaging Findings ◽  
Genetic Abnormality ◽  
Syndromic Hearing Loss ◽  
Heterozygous Carriers

AbstractObjective:To describe the concomitant imaging and genetic findings in children diagnosed with non-syndromic unilateral sensorineural hearing loss.Methods:A retrospective cohort study was conducted of 60 children diagnosed between January 2005 and December 2015 in a tertiary-level paediatric institution.Results:Average age at diagnosis was 4.3 years. All children were considered non-syndromic. Hearing loss was categorised as mild (17 children), moderate (17 children), severe (7 children) or profound (19 children). Imaging was performed in 43 children (71.66 per cent). Nineteen patients (44.2 per cent) had positive computed tomography or magnetic resonance imaging findings. Genetic testing was performed in 51 children (85 per cent). Sixteen children (31 per cent) tested positive to connexin 26 (GJB2); 1 patient (2 per cent) had a homozygous mutation of GJB2 and 15 were heterozygous carriers. Amongst children who tested positive as heterozygous carriers of a GJB2 mutation, there was a high rate of positive imaging findings (47 per cent compared to 37.2 per cent in the total cohort). A genetic abnormality was confirmed in 50 per cent of children with positive imaging findings who underwent genetic testing.Conclusion:Rates of concomitant imaging and genetic findings suggest that both investigations are of value in the study of these patients.

scholarly journals Audit of the Aetiological Investigations Performed in Children with Sensorineural Hearing Loss At Salford

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Saud K AlHajeri ◽  
Dr Mohammed Iqbal
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Sensorineural Hearing Loss ◽  
Genetic Counselling ◽  
Gold Standard ◽  
Sensorineural Hearing ◽  
British Association ◽  
Hearing Tests ◽  
Work Up

Objective: This project aims to look at the Audiovestibular Physician’s practice at Salford and how closely it aligns with the gold standard guidelines set in the protocol lately published by the British Association of Audiological Physicians. Method: An audit was done retrospectively on 20 patients suffering from sensorineural hearing loss. As such, patient notes were utilised to ascertain which aetiological investigations have been completed and which were not. Any inadequacy in the aetiological work up has been dissected to help know the underlying reasons. Results: All patients had a thorough history taken and were comprehensively physically examined. 95% of patients underwent imaging in the form of MRI/CT. 80% received CMV testing. 75% underwent ECG testing. 60% received family hearing tests. Only 35% had ophthalmology examinations and 25% underwent urine and genetic testing. Conclusion: In some cases, the low compliance rates were due to the Audiovestibular Physician not ordering the investigation as part of the aetiological work up. This could be improved with the use of a dedicated checklist to act as an aid to the physician. Moreover, genetic counselling has been proposed to attempt to boost the compliance rates with genetic testing and similarly, leaflets briefing patients’ families about the importance of undergoing hearing tests themselves is another promising proposition to help improve the adherence

scholarly journals Efficacy of Connexin testing in detecting Non-syndromic Sensorineural Hearing Loss in an Indian cohort

2020 ◽  
Author(s):  
Jagannath Kurva ◽  
Nalini Bhat ◽  
Suresh K Shettigar ◽  
Harshada Tawade ◽  
Shagufta Shaikh ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Sensorineural Hearing Loss ◽  
Indian Population ◽  
Sensorineural Hearing ◽  
Gjb2 Gene ◽  
Compound Heterozygous ◽  
Missense Mutations ◽  
Pathogenic Mutations ◽  
Chinese Studies

Hearing loss is one of the most common sensory disorder and approximately 466 million people have disabling hearing loss worldwide. This study was conducted to identify the mutations in the GJB2, GJB3, and GJB6 genes in an Indian cohort with non-syndromic sensorineural hearing loss and ascertain its use for genetic testing. 31 affected individuals with prelingual bilateral non-syndromic severe to profound sensorineural hearing loss were identified based on clinical evaluation and audiometric assessment. Sanger Sequencing method was used. Six out of 31 affected individuals showed pathogenic nonsense mutations in GJB2 gene, accounting to 19.3%. Of the 6 affected individuals, 5 were homozygous for c.71G>A(p.Trp24Ter) and one was compound heterozygous for c.71G>A and c.370C>T(p.Gln124Ter). Missense mutations [c.380G>A(p.Arg127His) and c.457G>A(p.Val153Ile)], and 3' UTR variations were also identified in GJB2 gene. GJB3 and GJB6 genes showed only silent mutations and 3' UTR variations. 19.3% of affected individuals showing pathogenic mutations in GJB2 gene in our cohort is comparable to other Indian studies (approximately 20%) and it is less as compared to Caucasian, Japanese, and Chinese studies (approximately 50%). Lower occurrence of pathogenic mutations in GJB2 gene in our cohort and other Indian studies as compared to other Caucasian, Japanese and Chinese studies, and absence of pathogenic mutations in GJB3 and GJB6 genes indicates that these genes may have a limited role in the Indian population. Hence there is a need to identify genes that play a major role in the Indian population so that they can be used for genetic testing for NHSL to aid in accurate and early diagnosis.

scholarly journals Genetic and audiologic study in elderly with sensorineural hearing loss

CoDAS ◽  
2013 ◽  
Vol 25 (3) ◽  
pp. 224-228 ◽  
Author(s):  
Kelly Martins ◽  
Marília Fontenele ◽  
Silva Câmara ◽  
Edi Lúcia Sartorato
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Noise Exposure ◽  
Pure Tone Audiometry ◽  
Genetic Mutation ◽  
Sensorineural Hearing ◽  
Control Group ◽  
Case Group ◽  
Syndromic Hearing Loss ◽  
And Gender

PURPOSE: This study aimed to correlate probable predisposing factors for sensorineural hearing loss in elderly by investigating the audiologic characteristics and frequency of mutations in genes considered responsible for non-syndromic hearing loss. METHODS: Sixty elderly patients were separated into two groups: the Case Group, composed of 30 individuals, 21 females and nine males, all 60 years old or older and presenting diagnoses of sensorineural hearing loss, and the Control Group, composed of 30 elderly individuals matched to the experimental group by age and gender, presenting normal hearing. The patients underwent anamnesis and pure tone audiometry in frequencies of 250, 500, 1000, 2000, 3000, 4000 and 6000 Hz. Blood samples were collected from each patient for analysis of mutations in nuclear and mitochondrial genes related to non-syndromic sensorineural hearing loss. RESULTS: It was observed a greater tendency to noise exposure and consumption of alcohol in the Case Group. The statistically significant symptoms between the groups were tinnitus and hearing difficulty in several situations as: silent environment, telephone, television, sound location and in church. All the individuals of Case Group presented sensorineural and bilateral hearing loss. The symmetry and progression of the hearing impairment were also statistically significant between the groups. No genetic mutations were identified. CONCLUSION: The most reported symptoms were communication difficulties and tinnitus. The predominant auditory characteristics included sensorineural, bilateral, progressive and symmetrical hearing loss. It was not evidenced a relationship between sensorineural hearing loss in elderly and genes considered responsible for non-syndromic hearing loss as no genetic mutation was found in this study.

scholarly journals Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss

2011 ◽  
Vol 2011 ◽  
pp. 1-5 ◽  
Author(s):  
Célia Nogueira ◽  
Miguel Coutinho ◽  
Cristina Pereira ◽  
Alessandra Tessa ◽  
Filippo M. Santorelli ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Mitochondrial Genome ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Novel Mutations ◽  
Portuguese Population ◽  
Molecular Investigation ◽  
Molecular Etiology ◽  
Testing And Counseling

The understanding of the molecular genetics in sensorineural hearing loss (SNHL) has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syndromic) and searched for variations in two frequent genes, GJB2 and GJB6, in the non-syndromic patients. Mutations in mtDNA were detected in 4.2% of the cases, including a hitherto undescribed change in the mtDNA-tRNATrp gene (namely, m.5558A>G). We also identified mono- or biallelic GJB2 mutations in 20 of 53 non-syndromic cases and also detected two novel mutations (p.P70R and p.R127QfsX84). Our data further reinforce the notion that genetic heterogeneity is paramount in children with SNHL.

Pontine Tegmental Cap Dysplasia

2011 ◽  
Vol 145 (6) ◽  
pp. 992-998 ◽  
Author(s):  
Nilesh K. Desai ◽  
Lindsay Young ◽  
Mario A. Miranda ◽  
Joe Walter Kutz ◽  
Peter S. Roland ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Cochlear Implantation ◽  
Cranial Nerves ◽  
Internal Auditory Canal ◽  
Sensorineural Hearing ◽  
Imaging Findings ◽  
Membranous Labyrinth ◽  
Brainstem Response ◽  
Temporal Bones

Objectives. Pontine tegmental cap dysplasia (PTCD) is a rare congenital malformation. Clinical and imaging findings in 3 patients and the authors’ experience with bilateral cochlear implantation in 1 patient are described. Study Design. Retrospective review. Setting. Two tertiary medical centers. Subjects and Methods. Three patients were evaluated by an otolaryngologist and underwent magnetic resonance imaging (MRI) of the temporal bones and brain. High-resolution computed tomography (CT) scanning of the temporal bones was performed in 2 patients. Imaging findings of the brain, the presence and course of resolvable cranial nerves, the membranous labyrinth, and internal auditory canals were reviewed. Clinical data were reviewed. Results. All patients demonstrated typical brain characteristics of PTCD. Mild, bilateral cochlear dysplasia was noted in 2, and all had a normal vestibular labyrinth. The cochleovestibular nerves were universally absent bilaterally. The facial nerves were subjectively deficient bilaterally in 1 patient, unilaterally in the second patient, and normal in the third. An accessory canal for the seventh cranial nerve, referred to as a duplicated internal auditory canal, was present in all patients. Auditory brainstem response testing revealed profound bilateral sensorineural hearing loss in all of the patients; none suffered facial weakness. A single patient underwent bilateral cochlear implantation with only minimal response. Conclusion. The authors report 3 cases of PTCD with emphasis on imaging of the seventh and eighth cranial nerves and clinical neurotologic findings. All patients manifested duplicated internal auditory canals, a previously unreported finding in PTCD. Bilateral profound sensorineural hearing loss is due to absence of the cochleovestibular nerve. Prognosis for cochlear implantation is poor.

scholarly journals Genetic background in late-onset sensorineural hearing loss patients

2021 ◽  
Author(s):  
Natsumi Uehara ◽  
Takeshi Fujita ◽  
Daisuke Yamashita ◽  
Jun Yokoi ◽  
Sayaka Katsunuma ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Sensorineural Hearing Loss ◽  
Late Onset ◽  
Japanese Patients ◽  
Sensorineural Hearing ◽  
The Other ◽  
Mild Phenotype ◽  
Appropriate Treatment ◽  
Bilateral Sensorineural Hearing Loss

AbstractGenetic testing for congenital or early-onset hearing loss patients has become a common diagnostic option in many countries. On the other hand, there are few late-onset hearing loss patients receiving genetic testing, as late-onset hearing loss is believed to be a complex disorder and the diagnostic rate for genetic testing in late-onset patients is lower than that for the congenital cases. To date, the etiology of late-onset hearing loss is largely unknown. In the present study, we recruited 48 unrelated Japanese patients with late-onset bilateral sensorineural hearing loss, and performed genetic analysis of 63 known deafness gene using massively parallel DNA sequencing. As a result, we identified 25 possibly causative variants in 29 patients (60.4%). The present results clearly indicated that various genes are involved in late-onset hearing loss and a significant portion of cases of late-onset hearing loss is due to genetic causes. In addition, we identified two interesting cases for whom we could expand the phenotypic description. One case with a novel MYO7A variant showed a milder phenotype with progressive hearing loss and late-onset retinitis pigmentosa. The other case presented with Stickler syndrome with a mild phenotype caused by a homozygous frameshift COL9A3 variant. In conclusion, comprehensive genetic testing for late-onset hearing loss patients is necessary to obtain accurate diagnosis and to provide more appropriate treatment for these patients.

scholarly journals Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss

2021 ◽  
Author(s):  
Michelle M. Florentine ◽  
Stephanie L. Rouse ◽  
Jihyun Stephans ◽  
David Conrad ◽  
Josephine Czechowicz ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Sensorineural Hearing Loss ◽  
Genetic Diagnosis ◽  
Ethnic Disparities ◽  
Black Children ◽  
Sensorineural Hearing ◽  
Unknown Etiology ◽  
Racial And Ethnic Disparities ◽  
Diagnostic Efficacy

AbstractUnderstanding racial and ethnic disparities in diagnostic rates of genetic testing is critical for health equity. We sought to understand the extent and cause of racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing (CGT) for sensorineural hearing loss (SNHL). We performed a retrospective cohort study at two tertiary children’s hospitals on a diverse cohort of 240 consecutive pediatric patients (76% publicly insured, 82% non-White) with SNHL of unknown etiology who underwent CGT. Definite and possible genetic diagnoses were assigned for each patient, representing the likelihood of a genetic cause of hearing loss. Associations between diagnostic rates were examined. 3.8 ± 2.1 variants were detected per patient; this frequency did not vary between White/Asian and Hispanic/Black cohorts. Overall, 82% of variants were variants of uncertain significance (VUS). Compared with White and Asian subjects, variants identified among Hispanic and Black children were less likely to be classified as pathogenic/likely pathogenic (15% vs. 24%, p < 0.001), and Hispanic and Black children were less likely to have a definite genetic diagnosis (10% vs. 37%, p < 0.001). The adjusted odds ratio for definite genetic diagnosis in Black and Hispanic children compared with White and Asian children was 0.19. Expanding genetic diagnostic criteria to include predicted deleterious VUSs reduced these disparities between White/Asian and Hispanic/Black children, with comparable molecular diagnostic rates (41% vs. 38%, p = 0.72). However, in silico predictions are insufficiently valid for clinical use. Increased inclusion of underrepresented groups in genetic hearing-loss studies to clinically validate these variants is necessary to reduce racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing.

Imaging Findings in Sensorineural Hearing Loss: A Pictorial Essay

2017 ◽  
Vol 68 (2) ◽  
pp. 106-115 ◽  
Author(s):  
Niamh Coffey ◽  
Carlos Torres ◽  
Rafael Glikstein ◽  
Taleb Al Mansoori ◽  
Raquel del Carpio-O'Donovan ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Imaging Findings ◽  
Pictorial Essay

scholarly journals Report of a Novel Splicing Mutation in the MYO15A Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the MYO15A Mutations

2019 ◽  
Vol 12 ◽  
pp. 117954761987190 ◽  
Author(s):  
Elinaz Akbariazar ◽  
Ali Vahabi ◽  
Isa Abdi Rad
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Exome Sequencing ◽  
Sanger Sequencing ◽  
Pathogenic Mutation ◽  
Sensorineural Hearing ◽  
Reading Frame ◽  
Clinical Exome Sequencing ◽  
Common Causes ◽  
Syndromic Hearing Loss

Introduction: Autosomal recessive non-syndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder with an approximate incidence of 1.4:1000 in neonates. Mutations in more than 60 genes including the MYO15A gene has been reported in patients affected with ARNSHL. In the present study, we report a novel MYO15A mutation identified by clinical exome sequencing and confirmed by Sanger sequencing in a consanguineous Iranian family with ARNSHL. Case presentation: A 22-year-old woman with congenital non-syndromic sensorineural hearing loss referred to our medical genetic center. Her parents were consanguineous with F = 1/16 (first cousin), and clinical examination of the patient exclude dysmorphic features. Sanger sequencing of GJB2 and GJB6 genes, which are the most common causes of ARNSHL, was negative. Then she underwent clinical exome sequencing. Outcome: We found a novel homozygote variant (c.9611_9612+8delTGGTGAGCAT) in the MYO15A gene which creates a shift in the reading frame starting at codon 3204. This variant was confirmed by Sanger sequencing in the patient and also in her parents who were heterozygous. Discussion: The present results suggest that the homozygous MYO15A (c.9611_9612+8delTGGTGAGCAT) variant is a pathogenic mutation and to the best of our knowledge, this mutation has not been reported in any database.

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