Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness
Mutations in MYH9 result in the autosomal dominant giant platelet disorders with leukocyte inclusion bodies with varying degrees of Alport manifestations, including nephritis, deafness, and cataracts. A specific MYH9 mutation in exon 16, R705H, causes nonsyndromic deafness DFNA17. We searched for mu...
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| Veröffentlicht in: | Genetic testing and molecular biomarkers 2009-10, Vol.13 (5), p.705-707 |
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| creator | Kunishima, Shinji Matsunaga, Tatsuo Ito, Yoshimi Saito, Hidehiko |
| description | Mutations in MYH9 result in the autosomal dominant giant platelet disorders with leukocyte inclusion bodies with varying degrees of Alport manifestations, including nephritis, deafness, and cataracts. A specific MYH9 mutation in exon 16, R705H, causes nonsyndromic deafness DFNA17. We searched for mutations in MYH9 exons 1, 16, 26, and 30 in a total of 157 Japanese patients with nonsyndromic deafness without known cause of hearing loss, but no mutations were found. We conclude that mutations in MYH9 are infrequently found in patients with nonsyndromic deafness and suggest that MYH9 mutations infrequently cause isolated sensorineural hearing loss. Thus, MYH9 may not currently be a good candidate gene for efficient screening of genetic causes in nonsyndromic deafness. |
| doi_str_mv | 10.1089/gtmb.2009.0044 |
| format | Article |
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A specific MYH9 mutation in exon 16, R705H, causes nonsyndromic deafness DFNA17. We searched for mutations in MYH9 exons 1, 16, 26, and 30 in a total of 157 Japanese patients with nonsyndromic deafness without known cause of hearing loss, but no mutations were found. We conclude that mutations in MYH9 are infrequently found in patients with nonsyndromic deafness and suggest that MYH9 mutations infrequently cause isolated sensorineural hearing loss. 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Thus, MYH9 may not currently be a good candidate gene for efficient screening of genetic causes in nonsyndromic deafness.</description><subject>Base Sequence</subject><subject>Causes of</subject><subject>Deafness</subject><subject>Deafness - ethnology</subject><subject>Deafness - genetics</subject><subject>Demographic aspects</subject><subject>DNA Primers</subject><subject>Exon (Molecular genetics)</subject><subject>Exons</subject><subject>Gene mutations</subject><subject>Genetic aspects</subject><subject>Genetic Testing</subject><subject>Health aspects</subject><subject>Humans</subject><subject>Japan</subject><subject>Molecular Motor Proteins - genetics</subject><subject>Mutation</subject><subject>Myosin Heavy Chains - genetics</subject><subject>Polymerase Chain Reaction</subject><issn>1945-0265</issn><issn>1945-0257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kTtvFTEQhS0EIiHQUiJX0ORexu91GUWBBCWigYLK8voRFu0Le1dw_z2zylXSIcvyY74zOvYh5C2DPYPGfrxfhnbPAeweQMpn5JRZqXbAlXn-uNfqhLyq9ReAlqLRL8kJs1oqzfUpme_WxS_dNFbajfTux7Wl6e92YueU6XPKcfoxUgHUl4RMLun3msalP9A8rVhB2Rc_-zHVRGdshbVK_3TLTzpin8MYyzR0gcbkMzL1NXmRfV_Tm-N6Rr5_uvp2eb27_fr55vLidheElsuOtcHkCFYJ7q0GZlrVRC0axYJVIK2QSYUIkHlWrRIm8OCNNTqhQjEVxRn58NB3LhMarosbuhpS36PTaa3OCAmmsZYj-f6_JGeMKSY1gvsH8N73yeFXTEvxAUdM-MJpTLnD-wvktWCNMU-CUKZaS8puLt3gy8ExcFt8bovPbfG5LT4UvDtaWdshxSf8mJf4ByYpk4M</recordid><startdate>20091001</startdate><enddate>20091001</enddate><creator>Kunishima, Shinji</creator><creator>Matsunaga, Tatsuo</creator><creator>Ito, Yoshimi</creator><creator>Saito, Hidehiko</creator><general>Mary Ann Liebert, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QO</scope><scope>7TK</scope><scope>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20091001</creationdate><title>Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness</title><author>Kunishima, Shinji ; Matsunaga, Tatsuo ; Ito, Yoshimi ; Saito, Hidehiko</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c364t-1bc7fd09532a96017b58d63851c9504934e5cd00f2f5b537c2ca7976e953515d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Base Sequence</topic><topic>Causes of</topic><topic>Deafness</topic><topic>Deafness - ethnology</topic><topic>Deafness - genetics</topic><topic>Demographic aspects</topic><topic>DNA Primers</topic><topic>Exon (Molecular genetics)</topic><topic>Exons</topic><topic>Gene mutations</topic><topic>Genetic aspects</topic><topic>Genetic Testing</topic><topic>Health aspects</topic><topic>Humans</topic><topic>Japan</topic><topic>Molecular Motor Proteins - genetics</topic><topic>Mutation</topic><topic>Myosin Heavy Chains - genetics</topic><topic>Polymerase Chain Reaction</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kunishima, Shinji</creatorcontrib><creatorcontrib>Matsunaga, Tatsuo</creatorcontrib><creatorcontrib>Ito, Yoshimi</creatorcontrib><creatorcontrib>Saito, Hidehiko</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Biotechnology Research Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Genetic testing and molecular biomarkers</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kunishima, Shinji</au><au>Matsunaga, Tatsuo</au><au>Ito, Yoshimi</au><au>Saito, Hidehiko</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness</atitle><jtitle>Genetic testing and molecular biomarkers</jtitle><addtitle>Genet Test Mol Biomarkers</addtitle><date>2009-10-01</date><risdate>2009</risdate><volume>13</volume><issue>5</issue><spage>705</spage><epage>707</epage><pages>705-707</pages><issn>1945-0265</issn><eissn>1945-0257</eissn><abstract>Mutations in MYH9 result in the autosomal dominant giant platelet disorders with leukocyte inclusion bodies with varying degrees of Alport manifestations, including nephritis, deafness, and cataracts. 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| ispartof | Genetic testing and molecular biomarkers, 2009-10, Vol.13 (5), p.705-707 |
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| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Base Sequence Causes of Deafness Deafness - ethnology Deafness - genetics Demographic aspects DNA Primers Exon (Molecular genetics) Exons Gene mutations Genetic aspects Genetic Testing Health aspects Humans Japan Molecular Motor Proteins - genetics Mutation Myosin Heavy Chains - genetics Polymerase Chain Reaction |
| title | Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness |
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