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Įgimto / paveldimo klausos sutrikimo genomika: įtaka patogenezei ir fenotipinei išraiškai Lietuvos populiacijoje

By Violeta Mikštienė

Abstract

Hearing loss (HL) is a considerable issue of modern medicine and society. The disorder is highly heterogeneous and hereditary factors play significant role in disease pathogenesis. The advancement of new technologies requires the development of scientific knowledge, in order to develop new treatment options and improve the social integration of patients. The aim of this study is to assess the influence of genetic factors to pathogenesis and phenotypic manifestation of HL in Lithuanian population. The group of 315 affected individuals was formed, their clinical, genealogy and genetic testing data were collected and analysed (DEAFGEN). Also, the analysis of the whole exome sequencing data in the group of healthy individuals from ethnic Lithuanian population was performed (LITGEN). Etiologic structure of HL was determined: genetic factors account 55.6 % of isolated HL cases (51.4 % GJB2 gene pathogenic variants), clinical diagnosis was identified to 64.4 % of participants in syndromic HL subgroup. Genetic factors in general lead to more severe (OR 3.3) and symmetric (OR 3.0) HL with positive family history (OR 2.6). The high frequency of carriers of pathogenic variants of genes associated with autosomal recessive HL (21.4 % with prevailing GJB2 gene alterations – 7.1 %) in the group of healthy participants corresponds to the substantial frequency of hereditary HL in Lithuania (~1 in 557 individuals). The recommendations for genetic diagnostics of congenital/hereditary HL in Lithuania were prepared

Topics: Hearing loss ; genomics ; genotype - phenotype correlation ; DEAFGEN ; LITGEN
Publisher: Institutional Repository of Vilnius University
Year: 2017
OAI identifier: oai:elaba:24770653
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