Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population

Hereditary nonsyndromic sensorineural hearing loss is a disease in which hearing loss occurs due to damage to the organ of the inner ear, the auditory nerve, or the center in the brain that is responsible for the perception of sound, characterized by wide locus and allelic heterogeneity and different types of inheritance. Given the diversity of population of the Russian Federation, it seems necessary to study the ethnic characteristics of the molecular causes of the disease. The aim is to study the molecular and genetic causes of hereditary sensorineural hearing loss in Chuvash, the fifth largest ethnic group in Russia. DNA samples of 26 patients from 21 unrelated Chuvash families from the Republic of Chuvashia, in whom the diagnosis of hereditary sensorineural hearing loss had been established, were analyzed using a combination of targeted Sanger sequencing, multiplex ligase-dependent probe amplification, and whole exome sequencing. The homozygous variant NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser) is the major molecular cause of hereditary sensorineural hearing loss in 23% of Chuvash patients (OMIM #601869). Its frequency was 25% in patients and 1.1% in healthy Chuvash population. Genotyping of the NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser) variant in five neighboring populations from the Volga-Ural region (Russian, Udmurt, Mary, Tatar, Bushkir) found no evidence that this variant is common in those populations.

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Erratum: CORRIGENDUM: Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population

Genetics in Medicine ◽

10.1038/gim.2015.122 ◽

2015 ◽

Vol 17 (10) ◽

pp. 839-839

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Pediatric Population ◽

Sensorineural Hearing ◽

Whole Exome

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Causes and Types of Sensorineural Hearing Loss. Clinical Manifestations and Basic Principles of Treatment

Spravočnik vrača obŝej praktiki (Journal of Family Medicine) ◽

10.33920/med-10-2009-01 ◽

2020 ◽

pp. 9-16

Author(s):

Sergey Armakov

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Inner Ear ◽

Clinical Manifestations ◽

Sensorineural Hearing ◽

Doppler Imaging ◽

Comprehensive Treatment ◽

Impaired Hearing ◽

Temporal Bones ◽

The Brain

Sensorineural hearing loss is a disorder associated with the damage to the inner ear structures: the cochlea (cortical organ), dysfunctioning of the vestibule-cochlear nerve or the central part of the auditory analyser (brain stem and cortical representation of the cortical temporal lobe). In recent years, there has been a steady increase in ensorineural hearing loss patients; they account for ca. 70% among the total patients with impaired hearing. The disease has numerous causes and a complex pathogenesis. Among the main factors contributing to hearing loss are genetic predisposition, perinatal pathology, including hypoxia at childbirth, exposure to infectious and toxic agents and metabolic disorders, injuries (mechanical, acoustic and altitude trauma). Vascular-rheological disorders in the vertebro-basilar system play an important part because blood is supplied to the inner ear from the anterior inferior cerebellar artery. There are sudden, acute and chronic sensorineural hearing loss. The ensorineural hearing loss isdiagnosed by examinations that allow to verify the diagnosis and to determine the sound analyser damage level. This complex includes audiometric examinations, including the tuning fork examination, speech audiometry, and acoustic impedancemetry. If necessary, ultrasound Doppler imaging of the main blood vessels of the brain, computed tomography of the temporal bones, and MRI of the brain are prescribed. The pattern of comprehensive treatment should include, first of all, the elimination of the disease cause and anti-hypoxic drugs, anti-oxidants and a number of physiotherapy procedures.

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Three Familial Cases of Hearing Loss Associated with Enlargement of the Vestibular Aqueduct

Annals of Otology Rhinology & Laryngology ◽

10.1177/000348949710601210 ◽

1997 ◽

Vol 106 (12) ◽

pp. 1063-1069 ◽

Cited By ~ 28

Author(s):

Satoko Abe ◽

Shin-ichi Usami ◽

Hideichi Shinkawa

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

High Frequency ◽

Present Report ◽

Sensorineural Hearing ◽

Familial Cases ◽

Vestibular Aqueduct ◽

Different Types ◽

The Common

The present report describes three familial cases of recessive hearing loss associated with enlargement of the vestibular aqueduct (EVA). Six siblings from three families showed EVA. The common characteristic of these patients was the presence of congenital, high-frequency, fluctuating sensorineural hearing loss. These cases suggest that EVA may be a useful discriminator between different types of recessive hearing loss.

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Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families

Genes ◽

10.3390/genes10121031 ◽

2019 ◽

Vol 10 (12) ◽

pp. 1031 ◽

Cited By ~ 3

Author(s):

Muhammad Noman ◽

Rafaqat Ishaq ◽

Shazia A. Bukhari ◽

Zubair M. Ahmed ◽

Saima Riazuddin

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Sensorineural Hearing ◽

Low Frequencies ◽

Locus Heterogeneity ◽

Pathogenic Variants ◽

Whole Exome ◽

The Family ◽

Novel Variants ◽

Pakistani Families

Hearing loss is a genetically heterogeneous disorder affecting approximately 360 million people worldwide and is among the most common sensorineural disorders. Here, we report a genetic analysis of seven large consanguineous families segregating prelingual sensorineural hearing loss. Whole-exome sequencing (WES) revealed seven different pathogenic variants segregating with hearing loss in these families, three novel variants (c.1204G>A, c.322G>T, and c.5587C>T) in TMPRSS3, ESRRB, and OTOF, and four previously reported variants (c.208C>T, c.6371G>A, c.226G>A, and c.494C>T) in LRTOMT, MYO15A, KCNE1, and LHFPL5, respectively. All identified variants had very low frequencies in the control databases and were predicted to have pathogenic effects on the encoded proteins. In addition to being familial, we also found intersibship locus heterogeneity in the evaluated families. The known pathogenic c.226C>T variant identified in KCNE1 only segregates with the hearing loss phenotype in a subset of affected members of the family GCNF21. This study further highlights the challenges of identifying disease-causing variants for highly heterogeneous disorders and reports the identification of three novel and four previously reported variants in seven known deafness genes.

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Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population

Genetics in Medicine ◽

10.1038/gim.2014.213 ◽

2015 ◽

Vol 17 (11) ◽

pp. 901-911 ◽

Cited By ~ 25

Author(s):

Nayoung K. D. Kim ◽

Ah Reum Kim ◽

Kyung Tae Park ◽

So Young Kim ◽

Min Young Kim ◽

...

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Pediatric Population ◽

Sensorineural Hearing ◽

Whole Exome

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Mitochondrial Diabetes: The Clinical Spectrum of MIDD and MELAS in Association With the A3243G Mutation

Journal of the Endocrine Society ◽

10.1210/jendso/bvab048.799 ◽

2021 ◽

Vol 5 (Supplement_1) ◽

pp. A392-A393

Author(s):

Khulood Bukhari ◽

Marjorie Pennant

Keyword(s):

Hearing Loss ◽

Mitochondrial Dna ◽

Lactic Acidosis ◽

Sensorineural Hearing Loss ◽

Medical History ◽

Sensorineural Hearing ◽

Restricted Diffusion ◽

Patient Reported ◽

A3243g Mutation ◽

The Brain

Abstract Introduction: Maternally inherited diabetes and deafness (MIDD) is a multisystem disorder characterized by insulinopenia and sensorineural hearing loss. This rare form of monogenic diabetes is most commonly associated with the A3243G mutation of mitochondrial DNA (mtDNA). The same mutation is seen in 80 percent of patients with MELAS (Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes). MIDD and MELAS have overlapping features suggesting a continuum of expression for the A3243G mutation. Clinical Case: A 41-year-old male was referred for genetic testing and counseling by his ophthalmologist following detection of bilateral punched-out retinal pigment epithelium (RPE) lesions on routine exam. His medical history was significant for type 1 diabetes mellitus (T1DM) diagnosed at the age of 21 and bilateral sensorineural hearing loss diagnosed at the age of 38. The referral was triggered by patient reported family history of MELAS in two of his brothers who were both diagnosed at the age of 10 and died at the ages of 20 and 27. Whether the patient was previously tested during early childhood remains unclear. His medical history was negative for stroke-like episodes or seizures. Neurologic evaluation revealed mild fluent aphasia with paraphasic errors and some comprehension difficulties. MRI of the brain without contrast showed no focus of restricted diffusion. Mitochondrial DNA sequence analysis was performed. A pathogenic variant (m.3243 A>G) was detected in the MT-TL1 gene at approximately 25% heteroplasmy. The patient was advised to avoid metformin given increased risk for lactic acidosis. He was also instructed against use of statins. At the age of 45, the patient presented to the emergency department (ED) with a complaint of headache, vertigo and incoordination. Physical examination revealed left homonymous hemianopsia, right horizontal nystagmus and bilateral upper extremity dysmetria. MRI of the brain without contrast showed a large area of predominantly cortical restricted diffusion involving the right temporal and occipital region with associated T2/FLAIR hyper-intensity. Cross over between the PCA and MCA territories was suggestive of a stroke-like episode related to MELAS. The patient received a bolus of IV arginine at 0.5 g/kg followed by an IV infusion of 0.5 g/kg/day for 3 days. He was later transitioned to oral arginine 5g three times daily and was discharged to a rehab facility. Clinical Lesson: This case demonstrates the evolution of MIDD to MELAS, supporting the concept that both syndromes represent a spectrum of the same disease. A few case reports describe the progression of MIDD to MELAS. Why some patients develop MELAS and others develop MIDD is unclear but may be related to heteroplasmy. Early identification of MIDD and MELAS is crucial given associated comorbidities and unique management issues.

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Hearing impairment screening in adults with chronic general somatic pathology in the republic of Adygeya

Kuban Scientific Medical Bulletin ◽

10.25207/1608-6228-2020-27-5-46-59 ◽

2020 ◽

Vol 27 (5) ◽

pp. 46-59

Author(s):

L. A. Lazareva ◽

S. A. Azamatova ◽

A. G. Kekeliya ◽

E. V. Zhugan ◽

L. V. Tsyplenkov ◽

...

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Screening Method ◽

Risk Groups ◽

Hearing Impaired ◽

Sensorineural Hearing ◽

Auditory Function ◽

Hearing Disorders ◽

The Republic ◽

Screening Survey

Background. The steadily growing number of hearing-impaired patients incited epidemiological research into the etiopathogenesis of sensorineural hearing loss.Objectives. To conduct a screening survey of hearing-impaired adults to identify early sensorineural hearing loss in patients with chronic general somatic pathology in the Republic of Adygea.Мethods. We used a screening method for auditory function disorder diagnosis based on surveying patients with no primary hearing complaints. A total of 6,346 patients with variant chronic general somatic pathology were surveyed anonymously. Statistical analysis and interpretation were performed with Statistica 10.0 and MS Excel 2010.Results. A point–based assessment survey of the patient’s psycho-emotional state in various classroom settings identifi ed the sensorineural disorder risk groups among the visitors of district and municipal outpatient units. Subclinical auditory function disorders were revealed in 16.5% (1045 of 6346), and putative hearing loss of various degree — in 36.2% (2295 of 6346) of the patients. In 47.3% (3006 of 6346), no evidence of hearing loss was observed in the survey. Accentuated analysis revealed early and severe hearing disorders among patients with cardiovascular, endocrine, nervous, excretory, respiratory and other diseases.Conclusion. We show the applicability of screening surveys for detecting early sensorineural hearing loss in patients with chronic general somatic pathology. Acceptance of adapted surveying by family physicians, neurologists and adult endocrinologists will facilitate preclinical identifi cation of risk groups among patients requiring specialised audiological care.

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PP21 Reassessment Of Cochlear Implantation For Children In Kazakhstan

International Journal of Technology Assessment in Health Care ◽

10.1017/s0266462318001939 ◽

2018 ◽

Vol 34 (S1) ◽

pp. 74-74

Author(s):

Lyazzat Kosherbayeva ◽

Aigul Medeulova ◽

David Hailey

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Cochlear Implantation ◽

Positive Influence ◽

Sensorineural Hearing ◽

School Age Children ◽

Clinical Protocols ◽

Clinical Protocol ◽

Screening Services ◽

The Republic

Introduction:Cochlear implantation (CI) is a standard technology for the management of children with sensorineural hearing loss. In the Republic of Kazakhstan (RK), CI was introduced in 2007. In 2012, a report for the Ministry of Health (MoH) of the RK considered the effectiveness of CI, age of implantation, use of clinical protocols, and availability of audiological screening and rehabilitation services. We assessed the influence of the report findings on the provision of medical care in the RK for children with sensorineural hearing loss.Methods:Information was collected in a survey of all RK health regions on issues related to CI, audiological screening and rehabilitation. Administrative data relevant to the provision of CI in the RK were obtained from the MoH. Data obtained were compared with those available for preparation of the 2012 report.Results:The proportion of medical organizations with equipment to provide audiological screening had improved, from 29 percent in 2012 to 90 percent in 2018. The proportion of children under two receiving CI increased from 12 percent to 36 percent, while that for children over five years decreased from 48 percent to 17 percent. A clinical protocol for CI in children was developed by a center in the MoH. Progress with post-CI rehabilitation of children was limited by a lack of specialists in the health regions. The proportion of school-age children with implants who have attended general schools remains low.Conclusions:The findings of the HTA report had a positive influence on availability of screening services and a protocol for CI. The average age of children receiving an implant has decreased, though it is still higher than in other countries. The need for improvements in post-CI rehabilitation and placement of children with implants in general schools is recognized but these await further resources.

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Intracochlear Hemorrhage: A Rare Cause of Sudden Sensorineural Hearing Loss

Case Reports in Radiology ◽

10.1155/2021/1072047 ◽

2021 ◽

Vol 2021 ◽

pp. 1-4

Author(s):

Myriam Jrad ◽

Haifa Zlitni ◽

Miriam Boumediene ◽

Atef Ben Nasr ◽

Meriem Bouzrara

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Internal Auditory Canal ◽

Sudden Sensorineural Hearing Loss ◽

Sensorineural Hearing ◽

Lower Intensity ◽

Fluid Attenuated Inversion Recovery ◽

3D Sequence ◽

The Right ◽

The Brain

Inner ear hemorrhage is an extremely rare cause of sudden sensorineural hearing loss with few cases reported in the literature. We report the case of a 30-year-old male who presented with a sudden left ear hearing loss, with no tinnitus nor vertigo. The audiogram revealed a profound left sensorineural hearing loss. An MRI of the brain and internal auditory canal was performed 3 weeks after and revealed an increased signal intensity on T1-weighted (T1W) and T2 fluid-attenuated inversion recovery (FLAIR) images in the left cochlea. No other abnormalities were found, in particular no enhancement after intravenous administration of gadolinium. The CISS 3D sequence showed a signal of discreetly lower intensity in the left cochlea compared to the right one. The diagnosis of intracochlear hemorrhage was made. No improvement of the hearing loss has been noted after medical treatment and hyperbaric oxygen therapy.

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