Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss
Mutations in mitochondrial DNA have been reported as associated with non-syndromic and aminoglycoside-induced hearing loss. In the present study, we have performed mutational screening of entire 12S rRNA gene in 250 unrelated patients with non-syndromic and aminoglycoside-induced hearing loss. Twent...
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| Veröffentlicht in: | Biochemical and biophysical research communications 2010-04, Vol.395 (1), p.116-121 |
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| creator | Rydzanicz, Małgorzata Wróbel, Maciej Pollak, Agnieszka Gawęcki, Wojciec Brauze, Damian Kostrzewska-Poczekaj, Magdalena Wojsyk-Banaszak, Irena Lechowicz, Urszula Mueller-Malesińska, Małgorzata Ołdak, Monika Płoski, Rafał Skarżyński, Henryk Szyfter, Krzysztof |
| description | Mutations in mitochondrial DNA have been reported as associated with non-syndromic and aminoglycoside-induced hearing loss. In the present study, we have performed mutational screening of entire
12S rRNA gene in 250 unrelated patients with non-syndromic and aminoglycoside-induced hearing loss. Twenty-one different homoplasmic sequence variants were identified, including eight common polymorphisms, one deafness-associated mutation m.1555 A>G and three putatively pathogenic variants: m.669 T>C, m.827 A>G, m.961 delT+C(n)ins. The incidence of m.1555 A>G was estimated for 3.6% (9/250); however, where aminoglycoside exposure was taken as a risk factor, the frequency was 5.5% (7/128). Substitution m.669 T>C was identified only in patients with hearing impairment and episode of aminoglycoside exposure, which may suggest that such additional risk factors must appear to induce clinical phenotype. Moreover, two
12S rRNA sequence variants: m.988 G>A and m.1453 A>G, localized at conserved sites and affected RNA secondary structure, may be new candidates for non-syndromic and aminoglycoside-induced hearing loss associated mutations. |
| doi_str_mv | 10.1016/j.bbrc.2010.03.149 |
| format | Article |
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12S rRNA gene in 250 unrelated patients with non-syndromic and aminoglycoside-induced hearing loss. Twenty-one different homoplasmic sequence variants were identified, including eight common polymorphisms, one deafness-associated mutation m.1555 A>G and three putatively pathogenic variants: m.669 T>C, m.827 A>G, m.961 delT+C(n)ins. The incidence of m.1555 A>G was estimated for 3.6% (9/250); however, where aminoglycoside exposure was taken as a risk factor, the frequency was 5.5% (7/128). Substitution m.669 T>C was identified only in patients with hearing impairment and episode of aminoglycoside exposure, which may suggest that such additional risk factors must appear to induce clinical phenotype. Moreover, two
12S rRNA sequence variants: m.988 G>A and m.1453 A>G, localized at conserved sites and affected RNA secondary structure, may be new candidates for non-syndromic and aminoglycoside-induced hearing loss associated mutations.</description><identifier>ISSN: 0006-291X</identifier><identifier>EISSN: 1090-2104</identifier><identifier>DOI: 10.1016/j.bbrc.2010.03.149</identifier><identifier>PMID: 20353758</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>12S rRNA gene mutations ; Adolescent ; Adult ; Aminoglycoside-induced hearing loss ; Aminoglycosides - adverse effects ; Anti-Bacterial Agents - adverse effects ; Child ; Child, Preschool ; DNA Mutational Analysis ; European Continental Ancestry Group ; Female ; Genes, Mitochondrial ; Genetic Testing ; Hearing Loss - chemically induced ; Hearing Loss - genetics ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Mitochondrial DNA ; Non-syndromic hearing loss ; Pedigree ; Poland ; Polymorphism, Genetic ; RNA, Ribosomal - genetics ; Young Adult</subject><ispartof>Biochemical and biophysical research communications, 2010-04, Vol.395 (1), p.116-121</ispartof><rights>2010 Elsevier Inc.</rights><rights>2010 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c387t-836850215722bb0dd623ba0047fc4a6fbeb4b90890716a4a75b96221be4466193</citedby><cites>FETCH-LOGICAL-c387t-836850215722bb0dd623ba0047fc4a6fbeb4b90890716a4a75b96221be4466193</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0006291X10006248$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20353758$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rydzanicz, Małgorzata</creatorcontrib><creatorcontrib>Wróbel, Maciej</creatorcontrib><creatorcontrib>Pollak, Agnieszka</creatorcontrib><creatorcontrib>Gawęcki, Wojciec</creatorcontrib><creatorcontrib>Brauze, Damian</creatorcontrib><creatorcontrib>Kostrzewska-Poczekaj, Magdalena</creatorcontrib><creatorcontrib>Wojsyk-Banaszak, Irena</creatorcontrib><creatorcontrib>Lechowicz, Urszula</creatorcontrib><creatorcontrib>Mueller-Malesińska, Małgorzata</creatorcontrib><creatorcontrib>Ołdak, Monika</creatorcontrib><creatorcontrib>Płoski, Rafał</creatorcontrib><creatorcontrib>Skarżyński, Henryk</creatorcontrib><creatorcontrib>Szyfter, Krzysztof</creatorcontrib><title>Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss</title><title>Biochemical and biophysical research communications</title><addtitle>Biochem Biophys Res Commun</addtitle><description>Mutations in mitochondrial DNA have been reported as associated with non-syndromic and aminoglycoside-induced hearing loss. In the present study, we have performed mutational screening of entire
12S rRNA gene in 250 unrelated patients with non-syndromic and aminoglycoside-induced hearing loss. Twenty-one different homoplasmic sequence variants were identified, including eight common polymorphisms, one deafness-associated mutation m.1555 A>G and three putatively pathogenic variants: m.669 T>C, m.827 A>G, m.961 delT+C(n)ins. The incidence of m.1555 A>G was estimated for 3.6% (9/250); however, where aminoglycoside exposure was taken as a risk factor, the frequency was 5.5% (7/128). Substitution m.669 T>C was identified only in patients with hearing impairment and episode of aminoglycoside exposure, which may suggest that such additional risk factors must appear to induce clinical phenotype. Moreover, two
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In the present study, we have performed mutational screening of entire
12S rRNA gene in 250 unrelated patients with non-syndromic and aminoglycoside-induced hearing loss. Twenty-one different homoplasmic sequence variants were identified, including eight common polymorphisms, one deafness-associated mutation m.1555 A>G and three putatively pathogenic variants: m.669 T>C, m.827 A>G, m.961 delT+C(n)ins. The incidence of m.1555 A>G was estimated for 3.6% (9/250); however, where aminoglycoside exposure was taken as a risk factor, the frequency was 5.5% (7/128). Substitution m.669 T>C was identified only in patients with hearing impairment and episode of aminoglycoside exposure, which may suggest that such additional risk factors must appear to induce clinical phenotype. Moreover, two
12S rRNA sequence variants: m.988 G>A and m.1453 A>G, localized at conserved sites and affected RNA secondary structure, may be new candidates for non-syndromic and aminoglycoside-induced hearing loss associated mutations.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>20353758</pmid><doi>10.1016/j.bbrc.2010.03.149</doi><tpages>6</tpages></addata></record> |
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| subjects | 12S rRNA gene mutations Adolescent Adult Aminoglycoside-induced hearing loss Aminoglycosides - adverse effects Anti-Bacterial Agents - adverse effects Child Child, Preschool DNA Mutational Analysis European Continental Ancestry Group Female Genes, Mitochondrial Genetic Testing Hearing Loss - chemically induced Hearing Loss - genetics Humans Infant Infant, Newborn Male Middle Aged Mitochondrial DNA Non-syndromic hearing loss Pedigree Poland Polymorphism, Genetic RNA, Ribosomal - genetics Young Adult |
| title | Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss |
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