Mutation analysis of the SLC26A4 gene in patients in Yakutia with inner ear abnormalities: IP-I, IP-II (Mondini) and / or EVA
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...
Published in: | Nauchno-prakticheskii zhurnal «Medicinskaia genetika» |
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Main Authors: | , , , , , , , , , , , , , , , , , , , |
Format: | Article in Journal/Newspaper |
Language: | Russian |
Published: |
Publishing House «Genius Media» LLC
2020
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Subjects: | |
Online Access: | https://www.medgen-journal.ru/jour/article/view/1441 https://doi.org/10.25557/2073-7998.2020.07.46-48 |
Summary: | 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). 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). |
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