Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity
A p.V37I variant of GJB2 has been reported from subjects with moderate or slight hearing loss especially in East Asian populations. This study aimed to estimate the prevalence of the p.V37I variant among such subjects and prove, epidemiologically, its pathogenic potential to cause mild hearing loss....
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| description | A p.V37I variant of GJB2 has been reported from subjects with moderate or slight hearing loss especially in East Asian populations. This study aimed to estimate the prevalence of the p.V37I variant among such subjects and prove, epidemiologically, its pathogenic potential to cause mild hearing loss. A total of 380 subjects from 201 families with hearing loss were enrolled. From them, 103 families were selected who had autosomal recessive inheritance or sporadic occurrence of hearing loss and who were younger than 15 years old. GJB2 sequencing was carried out for the probands of all 103 families. The prevalence of the p.V37I variant was compared between the subtle, mild or moderate hearing loss (group I) and the severe or profound hearing loss (group II) groups. Where possible, a targeted next generation sequencing of 82 deafness genes was performed from the p.V37I carrier to exclude the existence of other pathogenic genes. Five (4.8%) of 103 probands were found to carry p.V37I. The carrier frequency of p.V37I among group I (18.2%) was significantly higher than that of group II (1.2%) or the reported Korean normal hearing control group (1.0%). Detection of the p.V37I variant of GJB2 in 18.2% of Koreans with mild hearing loss strongly suggests its contribution to the pathogenesis of milder hearing loss, which might justify sequencing of GJB2 from these subjects in the Korean population. |
| doi_str_mv | 10.1371/journal.pone.0061592 |
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This study aimed to estimate the prevalence of the p.V37I variant among such subjects and prove, epidemiologically, its pathogenic potential to cause mild hearing loss. A total of 380 subjects from 201 families with hearing loss were enrolled. From them, 103 families were selected who had autosomal recessive inheritance or sporadic occurrence of hearing loss and who were younger than 15 years old. GJB2 sequencing was carried out for the probands of all 103 families. The prevalence of the p.V37I variant was compared between the subtle, mild or moderate hearing loss (group I) and the severe or profound hearing loss (group II) groups. Where possible, a targeted next generation sequencing of 82 deafness genes was performed from the p.V37I carrier to exclude the existence of other pathogenic genes. Five (4.8%) of 103 probands were found to carry p.V37I. The carrier frequency of p.V37I among group I (18.2%) was significantly higher than that of group II (1.2%) or the reported Korean normal hearing control group (1.0%). Detection of the p.V37I variant of GJB2 in 18.2% of Koreans with mild hearing loss strongly suggests its contribution to the pathogenesis of milder hearing loss, which might justify sequencing of GJB2 from these subjects in the Korean population.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0061592</identifier><identifier>PMID: 23637863</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adolescent ; Auditory defects ; Autosomal recessive inheritance ; Base Sequence ; Biology ; Child ; Connexin 26 ; Connexins - genetics ; Deafness ; Epidemiology ; Female ; Gene Frequency ; Gene sequencing ; Genes ; Genetic Variation ; Hearing loss ; Hearing Loss, Sensorineural - diagnosis ; Hearing Loss, Sensorineural - etiology ; Hearing Loss, Sensorineural - genetics ; Hearing protection ; Heredity ; Humans ; Male ; Medicine ; Mutation ; Otolaryngology ; Pathogenesis ; Pathogenicity ; Pathogens ; Pediatrics ; Pedigree ; Population studies ; Studies</subject><ispartof>PloS one, 2013-04, Vol.8 (4), p.e61592</ispartof><rights>COPYRIGHT 2013 Public Library of Science</rights><rights>2013 Kim et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2013 Kim et al 2013 Kim et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c758t-e1287472c658bc52ac015ff9de71bd55eb7bc6fad7d0537475c260b064db1de43</citedby><cites>FETCH-LOGICAL-c758t-e1287472c658bc52ac015ff9de71bd55eb7bc6fad7d0537475c260b064db1de43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3636207/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3636207/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,724,777,781,861,882,2096,2915,23847,27905,27906,53772,53774,79349,79350</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23637863$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Khudyakov, Yury E.</contributor><creatorcontrib>Kim, So Young</creatorcontrib><creatorcontrib>Park, Gibeom</creatorcontrib><creatorcontrib>Han, Kyu-Hee</creatorcontrib><creatorcontrib>Kim, Ahreum</creatorcontrib><creatorcontrib>Koo, Ja-Won</creatorcontrib><creatorcontrib>Chang, Sun O</creatorcontrib><creatorcontrib>Oh, Seung Ha</creatorcontrib><creatorcontrib>Park, Woong-Yang</creatorcontrib><creatorcontrib>Choi, Byung Yoon</creatorcontrib><title>Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>A p.V37I variant of GJB2 has been reported from subjects with moderate or slight hearing loss especially in East Asian populations. This study aimed to estimate the prevalence of the p.V37I variant among such subjects and prove, epidemiologically, its pathogenic potential to cause mild hearing loss. A total of 380 subjects from 201 families with hearing loss were enrolled. From them, 103 families were selected who had autosomal recessive inheritance or sporadic occurrence of hearing loss and who were younger than 15 years old. GJB2 sequencing was carried out for the probands of all 103 families. The prevalence of the p.V37I variant was compared between the subtle, mild or moderate hearing loss (group I) and the severe or profound hearing loss (group II) groups. Where possible, a targeted next generation sequencing of 82 deafness genes was performed from the p.V37I carrier to exclude the existence of other pathogenic genes. Five (4.8%) of 103 probands were found to carry p.V37I. The carrier frequency of p.V37I among group I (18.2%) was significantly higher than that of group II (1.2%) or the reported Korean normal hearing control group (1.0%). Detection of the p.V37I variant of GJB2 in 18.2% of Koreans with mild hearing loss strongly suggests its contribution to the pathogenesis of milder hearing loss, which might justify sequencing of GJB2 from these subjects in the Korean population.</description><subject>Adolescent</subject><subject>Auditory defects</subject><subject>Autosomal recessive inheritance</subject><subject>Base Sequence</subject><subject>Biology</subject><subject>Child</subject><subject>Connexin 26</subject><subject>Connexins - genetics</subject><subject>Deafness</subject><subject>Epidemiology</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Gene sequencing</subject><subject>Genes</subject><subject>Genetic Variation</subject><subject>Hearing loss</subject><subject>Hearing Loss, Sensorineural - diagnosis</subject><subject>Hearing Loss, Sensorineural - etiology</subject><subject>Hearing Loss, Sensorineural - genetics</subject><subject>Hearing protection</subject><subject>Heredity</subject><subject>Humans</subject><subject>Male</subject><subject>Medicine</subject><subject>Mutation</subject><subject>Otolaryngology</subject><subject>Pathogenesis</subject><subject>Pathogenicity</subject><subject>Pathogens</subject><subject>Pediatrics</subject><subject>Pedigree</subject><subject>Population 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of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity</title><author>Kim, So Young ; Park, Gibeom ; Han, Kyu-Hee ; Kim, Ahreum ; Koo, Ja-Won ; Chang, Sun O ; Oh, Seung Ha ; Park, Woong-Yang ; Choi, Byung Yoon</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c758t-e1287472c658bc52ac015ff9de71bd55eb7bc6fad7d0537475c260b064db1de43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adolescent</topic><topic>Auditory defects</topic><topic>Autosomal recessive inheritance</topic><topic>Base Sequence</topic><topic>Biology</topic><topic>Child</topic><topic>Connexin 26</topic><topic>Connexins - genetics</topic><topic>Deafness</topic><topic>Epidemiology</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Gene sequencing</topic><topic>Genes</topic><topic>Genetic Variation</topic><topic>Hearing loss</topic><topic>Hearing Loss, Sensorineural - diagnosis</topic><topic>Hearing Loss, Sensorineural - etiology</topic><topic>Hearing Loss, Sensorineural - genetics</topic><topic>Hearing protection</topic><topic>Heredity</topic><topic>Humans</topic><topic>Male</topic><topic>Medicine</topic><topic>Mutation</topic><topic>Otolaryngology</topic><topic>Pathogenesis</topic><topic>Pathogenicity</topic><topic>Pathogens</topic><topic>Pediatrics</topic><topic>Pedigree</topic><topic>Population studies</topic><topic>Studies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kim, So Young</creatorcontrib><creatorcontrib>Park, Gibeom</creatorcontrib><creatorcontrib>Han, Kyu-Hee</creatorcontrib><creatorcontrib>Kim, Ahreum</creatorcontrib><creatorcontrib>Koo, Ja-Won</creatorcontrib><creatorcontrib>Chang, Sun O</creatorcontrib><creatorcontrib>Oh, Seung Ha</creatorcontrib><creatorcontrib>Park, Woong-Yang</creatorcontrib><creatorcontrib>Choi, Byung 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Byung Yoon</au><au>Khudyakov, Yury E.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2013-04-25</date><risdate>2013</risdate><volume>8</volume><issue>4</issue><spage>e61592</spage><pages>e61592-</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>A p.V37I variant of GJB2 has been reported from subjects with moderate or slight hearing loss especially in East Asian populations. This study aimed to estimate the prevalence of the p.V37I variant among such subjects and prove, epidemiologically, its pathogenic potential to cause mild hearing loss. A total of 380 subjects from 201 families with hearing loss were enrolled. From them, 103 families were selected who had autosomal recessive inheritance or sporadic occurrence of hearing loss and who were younger than 15 years old. GJB2 sequencing was carried out for the probands of all 103 families. The prevalence of the p.V37I variant was compared between the subtle, mild or moderate hearing loss (group I) and the severe or profound hearing loss (group II) groups. Where possible, a targeted next generation sequencing of 82 deafness genes was performed from the p.V37I carrier to exclude the existence of other pathogenic genes. Five (4.8%) of 103 probands were found to carry p.V37I. The carrier frequency of p.V37I among group I (18.2%) was significantly higher than that of group II (1.2%) or the reported Korean normal hearing control group (1.0%). Detection of the p.V37I variant of GJB2 in 18.2% of Koreans with mild hearing loss strongly suggests its contribution to the pathogenesis of milder hearing loss, which might justify sequencing of GJB2 from these subjects in the Korean population.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>23637863</pmid><doi>10.1371/journal.pone.0061592</doi><tpages>e61592</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Auditory defects Autosomal recessive inheritance Base Sequence Biology Child Connexin 26 Connexins - genetics Deafness Epidemiology Female Gene Frequency Gene sequencing Genes Genetic Variation Hearing loss Hearing Loss, Sensorineural - diagnosis Hearing Loss, Sensorineural - etiology Hearing Loss, Sensorineural - genetics Hearing protection Heredity Humans Male Medicine Mutation Otolaryngology Pathogenesis Pathogenicity Pathogens Pediatrics Pedigree Population studies Studies |
| title | Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity |
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