Missense Mutation in the USH2A Gene: Association with Recessive Retinitis Pigmentosa without Hearing Loss
Microdeletions Glu767(1-bp del), Thr967(1-bp del), and Leu1446(2-bp del) in the human USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss. Each of these three frameshift mutations is predicted to lead to...
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| Veröffentlicht in: | American journal of human genetics 2000-06, Vol.66 (6), p.1975-1978 |
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| container_end_page | 1978 |
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| container_issue | 6 |
| container_start_page | 1975 |
| container_title | American journal of human genetics |
| container_volume | 66 |
| creator | Rivolta, Carlo Sweklo, Elizabeth A. Berson, Eliot L. Dryja, Thaddeus P. |
| description | Microdeletions Glu767(1-bp del), Thr967(1-bp del), and Leu1446(2-bp del) in the human
USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss. Each of these three frameshift mutations is predicted to lead to an unstable mRNA transcript that, if translated, would result in a truncated protein lacking the carboxy terminus. Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin–epidermal growth factor–like domain of the
USH2A gene and that is associated with recessive RP without hearing loss. This single mutation was found in 4.5% of 224 patients with recessive RP, suggesting that
USH2A could cause more cases of nonsyndromic recessive RP than does any other gene identified to date. |
| doi_str_mv | 10.1086/302926 |
| format | Article |
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USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss. Each of these three frameshift mutations is predicted to lead to an unstable mRNA transcript that, if translated, would result in a truncated protein lacking the carboxy terminus. Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin–epidermal growth factor–like domain of the
USH2A gene and that is associated with recessive RP without hearing loss. This single mutation was found in 4.5% of 224 patients with recessive RP, suggesting that
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USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss. Each of these three frameshift mutations is predicted to lead to an unstable mRNA transcript that, if translated, would result in a truncated protein lacking the carboxy terminus. Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin–epidermal growth factor–like domain of the
USH2A gene and that is associated with recessive RP without hearing loss. This single mutation was found in 4.5% of 224 patients with recessive RP, suggesting that
USH2A could cause more cases of nonsyndromic recessive RP than does any other gene identified to date.</description><subject>Alleles</subject><subject>Amino Acid Sequence</subject><subject>Base Sequence</subject><subject>Deafness</subject><subject>Epidermal Growth Factor - chemistry</subject><subject>Extracellular Matrix Proteins - chemistry</subject><subject>Extracellular Matrix Proteins - genetics</subject><subject>Female</subject><subject>Genes, Recessive - genetics</subject><subject>Humans</subject><subject>Laminin - chemistry</subject><subject>Male</subject><subject>Molecular Sequence Data</subject><subject>Mutation, Missense - genetics</subject><subject>Pedigree</subject><subject>Protein Structure, Tertiary</subject><subject>Retinitis Pigmentosa - genetics</subject><subject>Syndrome</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkU9v1DAQxS1ERZcCHwH5xC3gPxs74YC0qkoXaatWQM-W40x2B-3axeMs4tuTkgoKpxlpfnoz8x5jr6R4K0Vj3mmhWmWesIWsta2MEfVTthBCqKpVrT1lz4m-CSFlI_QzdiqFtXWt2gXDKySCSMCvxuILpsgx8rIDfvtlrVb8EiK85yuiFHAe_8Cy458hABEeYeoKRixI_Aa3B4glkf_NpLHwNfiMccs3iegFOxn8nuDlQz1jtx8vvp6vq8315afz1aYKS6FLZaCrGx_AqEHrJnS9CHIQtTCtDU03aCsbG7oggzWq75RfgulUI3rjYaiN1vqMfZh178buAH2YTsp-7-4yHnz-6ZJH9-8k4s5t09FJbSd32kngzYNATt9HoOIOSAH2ex8hjeSsqmu5NPIvGPL0X4bhzxIp3H0qbk5lAl8_PukRNscwAWIGYDLmiJAdBYQYoMcMobg-4f-avwCYjJki</recordid><startdate>20000601</startdate><enddate>20000601</enddate><creator>Rivolta, Carlo</creator><creator>Sweklo, Elizabeth A.</creator><creator>Berson, Eliot L.</creator><creator>Dryja, Thaddeus P.</creator><general>Elsevier Inc</general><scope>6I.</scope><scope>AAFTH</scope><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>7X8</scope><scope>5PM</scope></search><sort><creationdate>20000601</creationdate><title>Missense Mutation in the USH2A Gene: Association with Recessive Retinitis Pigmentosa without Hearing Loss</title><author>Rivolta, Carlo ; Sweklo, Elizabeth A. ; Berson, Eliot L. ; Dryja, Thaddeus P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c403t-6eb58ace62f338cbd0c1f050697c8bf37187cbc1c762db2a4e6b280d6aef56333</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Alleles</topic><topic>Amino Acid Sequence</topic><topic>Base Sequence</topic><topic>Deafness</topic><topic>Epidermal Growth Factor - chemistry</topic><topic>Extracellular Matrix Proteins - chemistry</topic><topic>Extracellular Matrix Proteins - genetics</topic><topic>Female</topic><topic>Genes, Recessive - genetics</topic><topic>Humans</topic><topic>Laminin - chemistry</topic><topic>Male</topic><topic>Molecular Sequence Data</topic><topic>Mutation, Missense - genetics</topic><topic>Pedigree</topic><topic>Protein Structure, Tertiary</topic><topic>Retinitis Pigmentosa - genetics</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rivolta, Carlo</creatorcontrib><creatorcontrib>Sweklo, Elizabeth A.</creatorcontrib><creatorcontrib>Berson, Eliot L.</creatorcontrib><creatorcontrib>Dryja, Thaddeus P.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rivolta, Carlo</au><au>Sweklo, Elizabeth A.</au><au>Berson, Eliot L.</au><au>Dryja, Thaddeus P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Missense Mutation in the USH2A Gene: Association with Recessive Retinitis Pigmentosa without Hearing Loss</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>2000-06-01</date><risdate>2000</risdate><volume>66</volume><issue>6</issue><spage>1975</spage><epage>1978</epage><pages>1975-1978</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><abstract>Microdeletions Glu767(1-bp del), Thr967(1-bp del), and Leu1446(2-bp del) in the human
USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss. Each of these three frameshift mutations is predicted to lead to an unstable mRNA transcript that, if translated, would result in a truncated protein lacking the carboxy terminus. Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin–epidermal growth factor–like domain of the
USH2A gene and that is associated with recessive RP without hearing loss. This single mutation was found in 4.5% of 224 patients with recessive RP, suggesting that
USH2A could cause more cases of nonsyndromic recessive RP than does any other gene identified to date.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>10775529</pmid><doi>10.1086/302926</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Cell Press Free Archives; ScienceDirect Journals (5 years ago - present); EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Alleles Amino Acid Sequence Base Sequence Deafness Epidermal Growth Factor - chemistry Extracellular Matrix Proteins - chemistry Extracellular Matrix Proteins - genetics Female Genes, Recessive - genetics Humans Laminin - chemistry Male Molecular Sequence Data Mutation, Missense - genetics Pedigree Protein Structure, Tertiary Retinitis Pigmentosa - genetics Syndrome |
| title | Missense Mutation in the USH2A Gene: Association with Recessive Retinitis Pigmentosa without Hearing Loss |
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