scholarly journals Molecular diagnostics of hearing loss due to mutations in the SLC26A4 gene in indigenous peoples of Southern Siberia (Russia)

2020 ◽  
Keyword(s):  
Hearing Loss ◽  
Indigenous Peoples ◽  
Molecular Diagnostics ◽  
Southern Siberia ◽  
Slc26a4 Gene

scholarly journals Analysis of the mutational spectrum of the SLC26A4 gene and its contribution to the etiology of inherited hearing loss in the indigenous population of Southern Siberia

2020 ◽  
pp. 43-45
Author(s):  
В.Ю. Данильченко ◽  
М.В. Зыцарь ◽  
Е.А. Маслова ◽  
М.С. Бады-Хоо ◽  
И.В. Морозов ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Unknown Etiology ◽  
Southern Siberia ◽  
Pathogenic Variants ◽  
Slc26a4 Gene ◽  
Wide Range ◽  
Polymorphic Variants ◽  
Tyva Republic

Мутации в гене SLC26A4 являются частой причиной потери слуха во многих регионах мира. В работе приводятся результаты молекулярно-генетического анализа (с использованием секвенирования по Сэнгеру) последовательности гена SLC26A4, впервые проведенного в выборке пациентов с потерей слуха неустановленной этиологии (n=232) из Республик Тыва и Алтай. Установлены контрастные различия патогенетического вклада мутаций в гене SLC26A4 в этиологию нарушения слуха у коренных жителей этих географически близких регионов: 28,2% - для тувинцев и 4,3% - для алтайцев. Выявлены как уже известные, так и новые патогенные варианты, а также широкий спектр полиморфных вариантов гена SLC26A4. Mutations in the SLC26A4 gene are a common cause of hearing loss in many regions of the world. This paper presents the results of molecular genetic analysis (by Sanger sequencing) of the SLC26A4 sequence, first performed in the sample of patients with hearing loss of unknown etiology (n=232) from the Tyva Republic and the Altai Republic. Contrast differences of the pathogenic contribution of SLC26A4 mutations to the etiology of hearing impairment were revealed in the indigenous peoples of these geographically close regions: 28.2% for Tuvinians and 4.3% for Altaians. Both known and novel pathogenic variants as well as a wide range of polymorphic variants were found in the SLC26A4 gene sequence.

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.

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.

Pilgrims, Fieldworkers, and Secret Agents: Buryat Buddhologists and the History of an Eurasian Imaginary

Inner Asia ◽  
2009 ◽  
Vol 11 (1) ◽  
pp. 23-45 ◽  
Author(s):  
Anya Bernstein
Keyword(s):  
Nineteenth Century ◽  
Indigenous Peoples ◽  
Late Nineteenth Century ◽  
Southern Siberia ◽  
Eurasian Continent ◽  
History Of ◽  
Late Nineteenth ◽  
The Many ◽  
Revolutionary History

AbstractThis article looks at the pre-Revolutionary history of Buryats' engagement with greater Eurasia, drawing on the legacies of the long underappreciated Russian Buddhological school and exploring the intellectual and political context of its emergence in the late nineteenth century. Exploring the role of Russian Orientalists and political figures such as the Orientalists V.P. Vasil'ev and Prince E.E. Ukhtomskii, and taking a close look at the fieldwork of the first Russian-trained indigenous Buryat Buddhologists G.Ts. Tsybikov and B.B. Baradiin, I demonstrate that this ultimately Eurasianist school of Buddhology was borne out of conflicting sentiments towards Russia's cosmopolitanism, statehood, and imperial destiny in Asia, as well as representations of indigenous peoples of southern Siberia. As a conclusion, I map the emergent forms of what I call 'Asian Eurasianism', linking it to contemporary cultural debates in Buryatia. I suggest that the term offers us a better way to understand the many ways by which many non-Russians position themselves in relation to the vast Eurasian continent.

Molecular diagnostics for hereditary hearing loss in children

2017 ◽  
Vol 17 (8) ◽  
pp. 751-760 ◽  
Author(s):  
Manou Sommen ◽  
Wim Wuyts ◽  
Guy Van Camp
Keyword(s):  
Hearing Loss ◽  
Molecular Diagnostics ◽  
Hereditary Hearing Loss

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss

2009 ◽  
Vol 73 (10) ◽  
pp. 1458-1463 ◽  
Author(s):  
Elona Cama ◽  
Maria Stella Alemanno ◽  
Emanuele Bellacchio ◽  
Rosamaria Santarelli ◽  
Massimo Carella ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Sensorineural Hearing ◽  
Slc26a4 Gene

scholarly journals Formation of the Soviet education system among the indigenous peoples of Southern Siberia in the 1920s

2021 ◽  
Vol 23 (2) ◽  
pp. 170-198
Author(s):  
L. N. Aksenova ◽  
L. V. Sokolskaya ◽  
A. S. Valentonis ◽  
I. V. Shcherbinina
Keyword(s):  
Primary Education ◽  
Indigenous Peoples ◽  
Education System ◽  
Education Systems ◽  
Southern Siberia ◽  
National Education ◽  
The World ◽  
Archival Documents ◽  
History Of ◽  
Soviet Education

Introduction. In the era of the formation of the world educational space, historical and pedagogical studies of regional education systems acquire special relevance. Many states, while modernising their national education systems, turn to the experience of past generations in order to understand how socio-economic changes taking place around the world and in Russia can affect the education system of a particular region. The twenties of the last century in Russia is a time of searching for new types of schools, opportunities for educating and teaching the younger generation in the spirit of the new (Soviet) ideology. The peoples of South Siberia (Altai, Shors, Kumandins, Chelkans, Teleuts, Tubalars, Telengits), united in the administrative-territorial framework of the Oirot Autonomous Region and the Gorno-Shor National Region, despite the difficulties, made a significant progress in the development of school education, including the number of the national school.The aim of the present article was to study the peculiarities of the process of formation and development of the Soviet education system among the indigenous peoples of Southern Siberia in the 1920s.Methodology and research methods. The research is based on the analysed and generalised content of archival documents, scientific sources on the history of the formation of the peoples of Southern Siberia in the context of the system-historical approach. The authors of the article studied 35 documents from the funds of the Committee for Archives of the Altai Republic and the Center for the Storage of Archives of the Altai Territory. The archival documents introduced into scientific circulation made it possible to consider the process of increasing the number of national schools, providing students with textbooks in their native language, the process of training teachers from the indigenous population, taking into account the national and cultural characteristics of the region.Results and scientific novelty. Based on the study of archival materials, the authors of the article rethink the activities of the Soviet authorities to restore and create the school network of education, its development and preparation for the introduction of universal primary education among the peoples of Southern Siberia. The issue of creating a national education system in the 1920s is closely connected with the process of indigenisation, as part of the national policy of the Soviet state and with the process of transferring the local population to settled life. By the beginning of the 1930s, a network of school institutions was created in the region, which increased the percentage of literate adolescents and subsequently enrolled in primary education all children of school age. Addressing national inequalities through the development of the education system and the eradication of illiteracy in the multinational region is of undeniable interest to educational historians and teachers.Practical significance. Today, the interest of researchers in regional history has increased all over the world; therefore, the current article will be useful to readers, as the analysis of new archival documents helps to fill the gaps in the scientific literature on the establishment of the Soviet school among the indigenous peoples of southern Siberia in the 1920s. The materials of the article can be used by teachers to design the courses on the history of education in Russia and the historical study of local lore. Moreover, the presented materials can be applied in the course of the development of a modern regional educational policy.

scholarly journals Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)

Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2378
Author(s):  
Valeriia Yu. Danilchenko ◽  
Marina V. Zytsar ◽  
Ekaterina A. Maslova ◽  
Marita S. Bady-Khoo ◽  
Nikolay A. Barashkov ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Diagnosis ◽  
Unknown Etiology ◽  
Pendred Syndrome ◽  
Genetic Causes ◽  
Asian Populations ◽  
Slc26a4 Gene ◽  
Medical Genetic Services ◽  
First Time ◽  
Local Healthcare

Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for local healthcare and medical genetic services. Mutations in the SLC26A4 gene leading to nonsyndromic recessive deafness (DFNB4) and Pendred syndrome are common genetic causes of hereditary HL, at least in some Asian populations. We present for the first time the results of a thorough analysis of the SLC26A4 gene by Sanger sequencing in the large cohorts of patients with HL of unknown etiology belonging to two neighboring indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians). A definite genetic diagnosis based on the presence of biallelic SLC26A4 mutations was established for 28.2% (62/220) of all enrolled Tuvinian patients vs. 4.3% (4/93) of Altaian patients. The rate of the SLC26A4-related HL in Tuvinian patients appeared to be one of the highest among populations worldwide. The SLC26A4 mutational spectrum was characterized by the presence of Asian-specific mutations c.919-2A>G and c.2027T>A (p.Leu676Gln), predominantly found in Tuvinian patients, and c.2168A>G (p.His723Arg), which was only detected in Altaian patients. In addition, a novel pathogenic variant c.1545T>G (p.Phe515Leu) was found with high frequency in Tuvinian patients. Overall, based on the findings of this study and our previous research, we were able to uncover the genetic causes of HL in 50.5% of Tuvinian patients and 34.5% of Altaian patients.

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