scholarly journals Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss

2019 ◽  
Vol 39 (3) ◽  
Author(s):  
Lihua Wu ◽  
Yunliang Liu ◽  
Jianman Wu ◽  
Sheng Chen ◽  
Shupin Tang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Ct Scan ◽  
Inner Ear ◽  
Gene Mutations ◽  
Pathogenic Mutation ◽  
Vestibular Aqueduct ◽  
Slc26a4 Gene ◽  
Pathogenic Mutations ◽  
Inner Ear Malformation ◽  
Single Allele

Abstract To investigate the possible association of pathogenic mutations of SLC26A4 and computerized tomography (CT) phenotypes of inner ear, and explore the feasibility of using the method of gene sequence analysis. A total of 155 patients with bilateral hearing loss carrying SLC26A4 gene mutations were further subjected to high-resolution temporal bone CT and thyroid B ultrasound tests. The potential relationship between the pathogenic mutations of gene and the CT phenotypes were analyzed. As a result, 65 patients (41.9%, 65/155) carried SLC26A4 gene mutations, and 27 cases were detected with pathogenic mutations of SLC26A4 where IVS7-2A>G (55.6%, 15/27) was the most common pathogenic mutation. Amongst them, 19 patients carrying bi-allelic SLC26A4 mutations were all confirmed to have inner ear malformation by CT scan including four cases of enlarged vestibular aqueduct (EVA) and 15 cases of Mondini dysplasia (MD). However, there was only one in eight cases of single allele pathogenic mutation who was confirmed to have EVA by CT scan. Further, only one patient with EVA was confirmed to be slightly higher of total T3 than normal by thyroid ultrasound scan and thyroid hormone assays. These findings suggested that CT detection and SLC26A4 gene detection are efficient methods to diagnose EVA, which can complement each other. Also, the bi-allelic pathogenic mutations of SLC26A4 are more likely to induce inner ear malformation than single allele pathogenic mutation.

Role of Computed Tomography and Magnetic Resonance Imaging in detecting the Prevalence of inner ear anomalies among cochlear implant candidates

QJM ◽  
2021 ◽  
Vol 114 (Supplement_1) ◽  
Author(s):  
Alaa Nasser Hussain Zaher ◽  
Tougan Taha Abd El Aziz ◽  
Ahmed Samy Abdelrahman
Keyword(s):  
Magnetic Resonance Imaging ◽  
Computed Tomography ◽  
Hearing Loss ◽  
Cochlear Implant ◽  
Inner Ear ◽  
Resonance Imaging ◽  
High Resolution Computed Tomography ◽  
Vestibular Aqueduct ◽  
Incomplete Partition ◽  
Ear Anomalies

Abstract Background Hearing loss management using cochlear implants in patients with inner ear anomalies has long been discussed in the otology community. Magnetic resonances imaging (B,/IRI) and Computed tomography (CT) play important roles in the preoperative assessment of inner ear abnormalities such as cochlear nerve deficiency and variant anatomy as these abnormalities may not only affect the decision of the implantation procedure or the patient's prognosis regarding auditory improvement, but also the risk of complications. Objective To examine the prevalence of inner ear anomalies among cochlear implant recipients in patients with congenital sensorineural hearing loss among the pediatric age group in the Demerdash hospital, Ain Shams university using High resolution computed tomography (HRCT) and MRI imaging. Methods A retrospective descriptive study over the course of 9 months that included all patients that are candidates for cochlear implant referred to the Radiology department, Ain Shams University Hospitals for a preoperative imaging in the form of CT and VIRI scans. Results CT and MRI scans of 33 patients who had congenital hearing loss and were candidates for cochlear implantation with total 66 ears were reviewed. Inner ear anomalies were identified in 8 patients representing a prevalence (24.2%) with 14 ear diseased. Anomalies were seen bilaterally in 6 patients and unilaterally in 2 patients. Among the 14 diseased ear, 9 ears (64.3%) were seen with incomplete partition Il, 7 ears (50%) were seen with enlarged vestibular aqueduct, 4 ears (28.6%) were seen with cochlear hypoplasia, 3 ears (21.4%) were seen with semicircular canal aplasia, 2 ears (14.3%) were seen with incomplete partition type I, 2 ears (14.3%) were seen with cochlear nerve aplasia, 2 ears with cochlear aplasia (14.3%), I ear (7.1%) was seen with common cavity ear (7.1%) with complete labyrinthine aplasia. Conclusion Prevalence of inner ear anomalies among cochlear implant candidates was 24.2%. This result is consistent with results worldwide and the most common anomalies were Incomplete partition Il and large vestibular aqueduct. Abbreviations Computed tomography (CT), Magnetic resonance imaging (MRI), High resolution computed tomography (HRCT), Internal auditory canal (IAC), Cerebellopontine angle (CPA).

scholarly journals Unilateral Enlarged Vestibular Aqueduct Syndrome and Bilateral Endolymphatic Hydrops

2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Massimo Ralli ◽  
Giuseppe Nola ◽  
Luca Sparvoli ◽  
Giovanni Ralli
Keyword(s):  
Hearing Loss ◽  
Intracranial Pressure ◽  
Endolymphatic Hydrops ◽  
Correct Diagnosis ◽  
Ct Scans ◽  
Vestibular Disorders ◽  
Hearing Improvement ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
Inner Ear Malformation

Enlarged vestibular aqueduct (EVA) syndrome is a common congenital inner ear malformation characterized by a vestibular aqueduct with a diameter larger than 1.5 mm, mixed or sensorineural hearing loss that ranges from mild to profound, and vestibular disorders that may be present with a range from mild imbalance to episodic objective vertigo. In our study, we present the case of a patient with unilateral enlarged vestibular aqueduct and bilateral endolymphatic hydrops (EH). EH was confirmed through anamnestic history and audiological exams; EVA was diagnosed using high-resolution CT scans and MRI images. Therapy included intratympanic infusion of corticosteroids with a significant hearing improvement, more evident in the ear contralateral to EVA. Although most probably unrelated, EVA and EH may present with similar symptoms and therefore the diagnostic workup should always include the proper steps to perform a correct diagnosis. Association between progression of hearing loss and head trauma in patients with a diagnosis of EVA syndrome is still uncertain; however, these individuals should be advised to avoid activities that increase intracranial pressure to prevent further hearing deterioration. Intratympanic treatment with steroids is a safe and well-tolerated procedure that has demonstrated its efficacy in hearing, tinnitus, and vertigo control in EH.

scholarly journals Mutation analysis of the SLC26A4 gene in patients in Yakutia with inner ear abnormalities: IP-I, IP-II (Mondini) and/or EVA

2021 ◽  
pp. 14-25
Author(s):  
Л.А. Кларов ◽  
К.Ю. Николаева ◽  
В.Г. Пшенникова ◽  
А.М. Чердонова ◽  
Ф.М. Терютин ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Autosomal Recessive ◽  
Sensorineural Hearing ◽  
Splice Donor Site ◽  
Total Contribution ◽  
Dominant Type ◽  
Slc26a4 Gene ◽  
Pendred’S Syndrome

Мутации гена SLC26A4 могут приводить как к формированию аутосомно-рецессивной тугоухости 4 типа (DFNB4, OMIM #600791), так и к синдрому Пендреда (PDS, OMIM #274600), при котором нейросенсорная потеря слуха сочетается с дисфункцией щитовидной железы, клинически проявляющейся во второй декаде жизни. Обе формы могут сопровождаться специфическими аномалиями внутреннего уха: IP-I, IP-II (Mondini) и/или EVA. В Якутии аудиологическими, рентгенологическими и молекулярно-генетическими методами обследовано 165 пациентов с врожденным нарушением слуха. При компьютерной томографии пирамиды височных костей у 9 из 165 (5,5%) пациентов были обнаружены аномалии IP-I, IP-II (Mondini) и/или EVA. Методом прямого секвенирования по Сэнгеру у этих 9 пациентов было проведено определение нуклеотидной последовательности гена SLC26A4 (21 экзон). В гене SLC26A4 обнаружено 5 ранее известных вариантов, среди которых 4 варианта относились к миссенс-заменам: c.85G>C p.(Glu29Gln), c.441G>A p.(Met147Ile), c.757A>G p.(Ile253Val), c.2027T>A p.(Leu676Gln) и один вариант затрагивал донорный сайт сплайсинга - c.2089+1G>A (IVS18+1G>A). У 4-х из 9 пациентов патогенные варианты гена SLC26A4 обнаружены в гомозиготном или компаунд-гетерозиготном состоянии. Доля биаллельных мутаций гена SLС26A4 у пациентов с IP-I, IP-II (Mondini) и/или EVA составила 44,4%. Пациенты с биаллельными мутациями гена SLC26A4 имели тяжелые врожденные нарушения слуха (двусторонняя нейросенсорная тугоухость от III степени до глухоты), при этом доминирующим типом аномалий были IP-II (Mondini)+EVA (62,5%), аномалии IP-I не были выявлены ни у одного пациента. По совокупности полученных клинических и молекулярно-генетических данных у трех пациентов форма заболевания классифицирована как аутосомно-рецессивная тугоухость 4 типа (DFNB4), а у одной пациентки с двусторонней аномалией EVA, нейросенсорной тугоухостью III степени и узловым зобом (оперирован) подтвержден синдром Пендреда. Mutations in the SLC26A4 gene can lead to both the formation of autosomal recessive deafness type 4 (DFNB4, OMIM#600791), and to Pendred’s syndrome (PDS, OMIM#274600), in which sensorineural hearing loss is combined with thyroid dysfunction, with both forms can be accompanied by specific anomalies of the inner ear: IP-I, IP-II (Mondini) and/or EVA. Using audiological, radiological and molecular genetics methods, 165 patients with congenital hearing impairment in Yakutia were examined. Computed tomography revealed IP-I, IP-II (Mondini) and/or EVA abnormalities in 9 of 165 (5,5%) patients. Then, using direct Sanger sequencing in these 9 patients, the nucleotide sequence of the coding regions of the SLC26A4 gene (21 exons) was determined. In total, 5 previously known variants were found in the SLC26A4 gene, among which 4 variants were missense substitutions: c.85G>C p.(Glu29Gln), c.441G>A p.(Met147Ile), c.757A>G p.(Ile253Val), c.2027T>A p.(Leu676Gln) and one variant affected the splice donor site - c.2089+1G>A (IVS18+1G>A). In 4 out of 9 patients, pathogenic variants of the SLC26A4 gene were found in a homozygous or compound heterozygous state. The total contribution of biallelic mutations in the SLC26A4 gene among patients with inner ear anomalies was 44,4%. Patients with biallelic SLC26A4-mutations had several to profound bilateral sensorineural hearing loss. In patients with biallelic SLC26A4-mutations, the dominant type of anomaly was IP-II (Mondini)+EVA (62,5%), IP-I anomalies were not detected in any patient. In three patients we were able to confirm the diagnosis of DFNB4, and in one patient, due to the sum of phenotypic features (operated on for nodular goiter, autosomal recessive deafness with EVA), Pendred’s syndrome was diagnosed.

scholarly journals Prevalence of Mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 Genes in 103 Children with Sensorineural Hearing Loss in Shaoxing, China

2018 ◽  
Vol 97 (6) ◽  
pp. E33-E38 ◽  
Author(s):  
Hong Yu ◽  
Dan Liu ◽  
Jingqun Yang ◽  
Zhiqiang Wu
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Genetic Screening ◽  
Mutant Allele ◽  
Hot Spot ◽  
Pathogenic Mutation ◽  
Sensorineural Hearing ◽  
Common Cause ◽  
Vestibular Aqueduct ◽  
Multiple Pcr

Mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes are known to be a common cause of hearing loss. However, the frequency of hot-spot mutations and genotype-phenotype correlations in patients with sensorineural hearing loss (SNHL) has been less frequently reported. We conducted a study of 103 children—56 boys and 47 girls, aged 5 months to 9 years (mean: 4.1 yr)—with SNHL who underwent genetic screening for 20 hot-spot mutations of the GJB2, SLC26A4, GJB3, and MT-RNR1 genes. Mutations were detected by multiple-PCR-based MALDI-TOF MS assay. At least one mutated allele was detected in 48 patients (46.6%), and 30 patients (29.1%) carried pathogenic mutations. Among all the detected mutations, the most common were GJB2 c.235delC and SLC26A4 c.919-2A>G, with allele frequencies of 23.8 and 6.8%, respectively. At least one mutant allele of SLC26A4 was detected in the 13 patients who had an enlarged vestibular aqueduct (EVA). Almost half of the children with SNHL carried a common deafness-related mutation, and nearly one-third carried a pathogenic mutation. The mutations in SLC26A4 were prevalent and correlated strongly with EVA.

Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in Bilateral Deafness Patients with Inner Ear Malformation

2012 ◽  
Vol 146 (6) ◽  
pp. 972-978 ◽  
Author(s):  
Kaitian Chen ◽  
Xianren Wang ◽  
Liang Sun ◽  
Hongyan Jiang
Keyword(s):  
Inner Ear ◽  
Hearing Impairment ◽  
Pathogenic Mutation ◽  
Cross Sectional Study ◽  
Chinese Patients ◽  
Cross Sectional ◽  
Direct Dna Sequencing ◽  
Inner Ear Malformation ◽  
Ear Malformations ◽  
Gjb2 Mutations

Objective. Bilateral nonsyndromic sensorineural hearing loss associated with inner ear malformation is closely related to genetics. SLC26A4 is considered to be the major involved gene. Recently, FOXI1 and KCNJ10 mutations have been linked to enlarged vestibular aqueducts and GJB2 mutations linked to temporal bone malformation. The authors aimed to investigate the mutation spectrums of these genes in Chinese patients with bilateral hearing impairment associated with inner ear malformation. Study Design. Cross-sectional study. Setting. Affiliated hospital of the university. Subjects and Methods. The authors analyzed the GJB2, SLC26A4, FOXI1, and KCNJ10 gene sequences in 43 patients presenting with bilateral hearing impairment associated with inner ear malformation using pyrosequencing and direct DNA sequencing. Results. In total, 74.4% (32/43) of patients carried at least 1 of 14 pathogenic SLC26A4 mutations, including 6 novel mutations and 4 polymorphisms. Patients with enlarged vestibular aqueducts had a higher rate of SLC26A4 mutation than Mondini dysplasia patients. No FOXI1 or KCNJ10 potential pathogenic mutation was present, and GJB2 biallelic pathogenic mutations were uncommon (2.3%; 1/43). No significant correlation was observed between the genotype and phenotype of SLC26A4 mutations. Conclusion. SLC26A4 accounts for 74.4% of inner ear malformations in our cohort, whereas FOXI1, KCNJ10, and GJB2 mutations are not common. Other possible genes or external factors may contribute to this multibranch abnormality.

scholarly journals Revision Stapedectomy in a Female Patient with Inner Ear Malformation

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Tirth R. Patel ◽  
Aaron C. Moberly
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Female Patient ◽  
Stapes Surgery ◽  
Mixed Hearing Loss ◽  
Inner Ear Malformation ◽  
Ear Malformations ◽  
Surgical History ◽  
History Of ◽  
Cochlear Malformation

Objectives. We describe an unusual case of surgical management of congenital mixed hearing loss in a female patient with inner ear malformation. This report outlines the role of temporal bone imaging and previous surgical history in evaluating a patient’s risk of perilymph gusher during stapes surgery.Methods. A 68-year-old female patient with a history of profound bilateral mixed hearing loss due to ossicular and cochlear malformation presented to our otology clinic. She had undergone multiple unsuccessful previous ear surgeries. Computed tomography revealed bilateral inner ear malformations. She elected to proceed with revision stapedectomy.Results. The patient received modest benefit to hearing, and no operative complications occurred.Conclusions. Although stapedectomy has been shown to improve hearing in patients with stapes fixation, there is risk of perilymph gusher in patients with inner ear abnormalities. Evaluation and counseling of the risk of gusher during stapes surgery should be done on a case-by-case basis.

Enlarged vestibular aqueducts and other inner-ear abnormalities in patients with Down syndrome

2016 ◽  
Vol 131 (4) ◽  
pp. 298-302 ◽  
Author(s):  
C M Clark ◽  
H H Patel ◽  
S G Kanekar ◽  
H Isildak
Keyword(s):  
Computed Tomography ◽  
Hearing Loss ◽  
Down Syndrome ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Internal Auditory Canal ◽  
Sensorineural Hearing ◽  
Vestibular Aqueduct ◽  
Computed Tomography Images ◽  
Temporal Bones

AbstractBackground:Histopathological anomalies of inner-ear structures in individuals with Down syndrome have been well documented; however, few studies have examined the radiological features.Methods:A retrospective study was conducted of temporal bone computed tomography images in 38 individuals (75 ears) with Down syndrome to evaluate the prevalence of inner-ear abnormalities and assess vestibular aqueduct widths.Results:Inner-ear anomalies were identified in 20 of the 38 individuals (52.6 per cent). Seven of the 75 temporal bones (9.3 per cent) were found to have higher than previously reported. A dilated internal auditory canal and vestibule were more common among the present study group, while prior studies have demonstrated internal auditory canal stenosis and decreased vestibule size.Conclusion:Down syndrome patients exhibit a high prevalence of dysplastic inner-ear features that confer substantial risk of sensorineural hearing loss. Computed tomography is a useful screening aid to detect inner-ear abnormalities, particularly enlarged vestibular aqueducts, which cause preventable sensorineural hearing loss in this population.

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