High incidence of GJB2 gene mutations among assortatively mating hearing impaired families in Kerala: future implications
Hearing Impairment (HI) affects one in 500 newborns, making it the most common congenital sensory disorder worldwide. Despite extraordinary genetic heterogeneity in the complex synchronization of the hearing process, mutation in one gene, the gap junction beta 2 (GJB2) gene encoding the connexin 26...
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| Veröffentlicht in: | Journal of genetics 2014-04, Vol.93 (1), p.207-213 |
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| container_title | Journal of genetics |
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| creator | PAVITHRA, AMRITKUMAR JEFFREY, JUSTIN MARGRET CHANDRU, JAYASANKARAN RAMESH, ARABANDI SRIKUMARI SRISAILAPATHY, C. R. |
| description | Hearing Impairment (HI) affects one in 500 newborns, making it the most common congenital sensory disorder worldwide. Despite extraordinary genetic heterogeneity in the complex synchronization of the hearing process, mutation in one gene, the gap junction beta 2 (GJB2) gene encoding the connexin 26 protein, accounts for more than 50% of inherited hearing loss across various populations in the world. Our present study was aimed at understanding the contribution of GJB2 mutations to nonsyndromic hearing loss in a special cohort of assortatively mating HI individuals and their families from the state of Kerala in southern India |
| doi_str_mv | 10.1007/s12041-014-0338-3 |
| format | Article |
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Our present study was aimed at understanding the contribution of GJB2 mutations to nonsyndromic hearing loss in a special cohort of assortatively mating HI individuals and their families from the state of Kerala in southern India</description><identifier>ISSN: 0022-1333</identifier><identifier>EISSN: 0973-7731</identifier><identifier>DOI: 10.1007/s12041-014-0338-3</identifier><identifier>PMID: 24840842</identifier><language>eng</language><publisher>India: Springer India</publisher><subject>Achondroplasia ; Animal Genetics and Genomics ; Biomedical and Life Sciences ; Connexin 26 ; Connexins - genetics ; Consanguinity ; DNA Mutational Analysis ; Evolutionary Biology ; Families & family life ; Family ; Female ; Gene mutations ; Genes ; Genetic aspects ; Genetic Association Studies ; Genotype ; Health Knowledge, Attitudes, Practice ; Hearing loss ; Hearing Loss - epidemiology ; Hearing Loss - genetics ; Humans ; Incidence ; India ; Life Sciences ; Male ; Microbial Genetics and Genomics ; Mutation ; Pedigree ; Phenotype ; Plant Genetics and Genomics ; Research Note</subject><ispartof>Journal of genetics, 2014-04, Vol.93 (1), p.207-213</ispartof><rights>Indian Academy of Sciences 2014</rights><rights>COPYRIGHT 2014 Springer</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c439t-9cceefacdb71aeb1222196a48ac797fc1f90c2824f2852cace81b3a884748d383</citedby><cites>FETCH-LOGICAL-c439t-9cceefacdb71aeb1222196a48ac797fc1f90c2824f2852cace81b3a884748d383</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12041-014-0338-3$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12041-014-0338-3$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24840842$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>PAVITHRA, AMRITKUMAR</creatorcontrib><creatorcontrib>JEFFREY, JUSTIN MARGRET</creatorcontrib><creatorcontrib>CHANDRU, JAYASANKARAN</creatorcontrib><creatorcontrib>RAMESH, ARABANDI</creatorcontrib><creatorcontrib>SRIKUMARI SRISAILAPATHY, C. R.</creatorcontrib><title>High incidence of GJB2 gene mutations among assortatively mating hearing impaired families in Kerala: future implications</title><title>Journal of genetics</title><addtitle>J Genet</addtitle><addtitle>J Genet</addtitle><description>Hearing Impairment (HI) affects one in 500 newborns, making it the most common congenital sensory disorder worldwide. Despite extraordinary genetic heterogeneity in the complex synchronization of the hearing process, mutation in one gene, the gap junction beta 2 (GJB2) gene encoding the connexin 26 protein, accounts for more than 50% of inherited hearing loss across various populations in the world. Our present study was aimed at understanding the contribution of GJB2 mutations to nonsyndromic hearing loss in a special cohort of assortatively mating HI individuals and their families from the state of Kerala in southern India</description><subject>Achondroplasia</subject><subject>Animal Genetics and Genomics</subject><subject>Biomedical and Life Sciences</subject><subject>Connexin 26</subject><subject>Connexins - genetics</subject><subject>Consanguinity</subject><subject>DNA Mutational Analysis</subject><subject>Evolutionary Biology</subject><subject>Families & family life</subject><subject>Family</subject><subject>Female</subject><subject>Gene mutations</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic Association Studies</subject><subject>Genotype</subject><subject>Health Knowledge, Attitudes, Practice</subject><subject>Hearing loss</subject><subject>Hearing Loss - epidemiology</subject><subject>Hearing Loss - genetics</subject><subject>Humans</subject><subject>Incidence</subject><subject>India</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Microbial Genetics and Genomics</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Plant Genetics and Genomics</subject><subject>Research Note</subject><issn>0022-1333</issn><issn>0973-7731</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp1kUtv1DAUhS0Eog_4AWyQJTZsUvyascOurWhLW4kNrK07zvXUVRwPdoI0_x5HKU-18uI-9J2jax1C3nB2whnTHwoXTPGGcdUwKU0jn5FD1mrZaC3589ozIRoupTwgR6Xcz6Nm4iU5EMooZpQ4JPursL2jYXChw8EhTZ5eXp8JusUBaZxGGEMaCoWYhi2FUlKeVz-w39NYm7q8Q8hzDXEHIWNHPcTQByzVld5ghh4-Uj-NU8aZ6YNbPF-RFx76gq8f6jH5dvHp6_lVc_vl8vP56W3jlGzHpnUO0YPrNpoDbrgQgrdrUAacbrV33LfMCSOUF2YlHDg0fCPBGKWV6aSRx-T94rvL6fuEZbQxFId9DwOmqVi-Emst19KIir77D71PUx7qdZWSelVJbv5QW-jRhsGnMYObTe2p5tqIek1bqZNHqPo6jMGlAX2o-38EfBG4nErJ6O0uhwh5bzmzc9x2idvWuO0ct5VV8_bh4GkTsfut-JVvBcQClN0cEua_fvSk60_bprRt</recordid><startdate>20140401</startdate><enddate>20140401</enddate><creator>PAVITHRA, AMRITKUMAR</creator><creator>JEFFREY, JUSTIN MARGRET</creator><creator>CHANDRU, JAYASANKARAN</creator><creator>RAMESH, ARABANDI</creator><creator>SRIKUMARI SRISAILAPATHY, C. 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| source | MEDLINE; Indian Academy of Sciences; SpringerLink Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Achondroplasia Animal Genetics and Genomics Biomedical and Life Sciences Connexin 26 Connexins - genetics Consanguinity DNA Mutational Analysis Evolutionary Biology Families & family life Family Female Gene mutations Genes Genetic aspects Genetic Association Studies Genotype Health Knowledge, Attitudes, Practice Hearing loss Hearing Loss - epidemiology Hearing Loss - genetics Humans Incidence India Life Sciences Male Microbial Genetics and Genomics Mutation Pedigree Phenotype Plant Genetics and Genomics Research Note |
| title | High incidence of GJB2 gene mutations among assortatively mating hearing impaired families in Kerala: future implications |
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