Objective. To analyze the spectrum and frequency of inner ear anomalies in patients with congenital hearing impairment in Yakutia.Material and methods. A total of 165 patients with congenital hearing impairment were surveyed. All the patients were examined by an audiologist, an educational audiologist, and a neuropsychiatrist. All the patients underwent X-ray computed tomography (X-ray CT) of temporal bone structures (which was supplemented by magnetic resonance imaging (MRI) in some cases).Results. Based on modern ideas about inner ear anomalies and their classification, the authors first analyzed the spectrum and frequency of inner ear anomalies in patients with congenital hearing impairment in Yakutia. Inner ear malformations were identified in 16 (9.7%) of the 165 patients with hearing impairment, which corresponds to that in the previously studied samples of deaf people in different countries (from 3% to 35%). Of the inner ear structures, the cochlea and vestibule were more commonly affected. Abnormalities of the internal auditory meatus, semicircular canals, and vestibular aqueduct were less common. In general, the spectrum of anomalies was represented by 7 different malformations. Incomplete partition type II (IP-II) (34.3%) came first in incidence among all the abnormalities. Incomplete partition type III (IP-III) (18.7%) ranked second in incidence. The expansion of the internal auditory meatus (12.5%) and vestibular aqueduct (12.5%) occupied the third place. Inner ear anomalies occurred as concurrences that are difficult to interpret and classify in half (50%) of all the cases.Conclusion. Analysis of the spectrum and frequency of temporal bone abnormalities in Yakutia suggests that every 10 patients with congenital hearing impairment have one or another inner ear structural malformation (9.7%) and require accurate and timely diagnosis using up-to-date X-ray CT and MRI techniques.
В диагностике наследственной несиндромальной потери слуха высокую информативность обеспечивают методы молекулярно-генетического анализа мутаций гена GJB2 (Cx26). Впервые в Республике Бурятия (Восточная Сибирь) путем прямого секвенирования были определены спектр и частота мутаций гена GJB2 у 165 индивидов с нарушениями слуха. В обследованной выборке было обнаружено 13 известных аллельных вариантов гена GJB2 (c.-254C>T, c.-49G>A, c.-23+1G>A, c.35delG, c.79G>A, c.101T>C, c.109G>A, c.235delC, c.299_300delАТ, c.327_328delinsA, c.341A>G, c.457G>A и c.516G>C). У пациентов бурятов мутационный спектр был представлен пятью патогенными GJB2-вариантами: c.-23+1G>A (4,1%), c.109G>A (0,6%), c.235delC (1,4%), c.327_328delGGinsA (0,6%), c.516G>C (0,6%). Среди русских пациентов было обнаружено пять мутаций: c.35delG (25,7%), c.-23+1G>A (3,3%), c.101Т>С (0,6%), c.109G>A (1,9%), c.299_300delАТ (0,6%). Вклад биаллельных мутаций гена GJB2 в этиологию потери слуха в общей выборке пациентов из Бурятии составил 15,8% (26/165). При распределении пациентов по этнической принадлежности вклад биаллельных мутаций гена GJB2 в этиологию потери слуха у русских составил 28,9% (22/76), в то время как у бурятов лишь 5,1% (4/79). Таким образом, результаты нашего исследования свидетельствуют о том, что мутации гена GJB2 не являются основной причиной потери слуха у бурятов. Вероятно, у большей части GJB2-негативных пациентов потеря слуха может быть обусловлена мутациями в других генах, ответственных за развитие наследственных нарушений слуха. In the diagnosis of hereditary non-syndromic hearing loss (HL), the methods of molecular genetic analysis of the GJB2 (Cx26) gene mutations provide high valuable information. For the first time, in the Republic of Buryatia (Eastern Siberia), the spectrum and frequency of GJB2 gene mutations were determined in a sample of 165 individuals with HL using sequencing of significant regions of the GJB2 gene. A total of 13 known allelic variants were found (c.-254C>T, c.-49G>A, c.-23+1G>A, c.35delG, c.79G>A, c.101T>C, c.109G>A, c.235delC, c.299_300delAT, c.327_328delinsA, c.341A>G, c.457G>A u c.516G>C). In the sample of Buryat patients, the mutation spectrum was represented by five GJB2 variants: c.-23+1G>A (4.1%), c.109G>A (0.6%), c.235delC (1.4%), c.327_328delGGinsA (0.6%), c.516G>C (0.6%). Five mutations were found among Russian patients: c.35delG (25.7%), c.-23+1G>A (3.3%), c.109G>A (1.9%), c.101T>C (0.6%), c.299_300delAT (0.6%). In general, the contribution of biallelic mutations of the GJB2 gene to the etiology of HL in the total sample of patients in Buryatia was 15.8% (26/165). When the total sample of patients was divided by ethnicity the contribution of biallelic mutations of the GJB2 gene to the etiology of HL in Buryat patients was 5.1% (4/79), and in Russian patients - 28.9% (22/76). Thus, the results of our study indicate that the mutations in the GJB2 gene are not the main cause of HL in Buryats. Probably, in some GJB2-negative patients (84.2% in our study), HL may be due to the mutations in other genes responsible for the development of hereditary hearing impairments.
В работе представлены результаты обследований 165 пациентов с врожденными нарушениями слуха из Якутии, проведенных с использованием аудиологических, рентгенологических и молекулярно-генетических методов с целью изучения аутосомно-рецессивной формы глухоты, связанной с аномалиями внутреннего уха (IP-I, IP-II и/или EVA) и мутациями гена SLC26A4 (DFNB4, MIM 600791). We presents the results of audiological, radiological and molecular genetic studies of 165 patients with congenital hearing impairment in Yakutia to investigate of autosomal recessive form of deafness associated with anomalies of the inner ear (IP-I, IP-II and / or EVA) and mutations in the SLC26A4 gene (DFNB4, MIM 600791).
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