A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers
Abstract Bilateral sensorineural hearing loss is a characteristic feature of Alport syndrome, which is always linked to renal manifestations so they have a parallel evolution and prognosis, and deafness helps to identify the renal disease. We report a family that suffers an autosomal dominant Alport...
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| Veröffentlicht in: | European journal of medical genetics 2015-01, Vol.58 (1), p.35-38 |
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| container_title | European journal of medical genetics |
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| creator | Rosado, Consolación Bueno, Elena Fraile, Pilar García-Cosmes, Pedro González-Sarmiento, Rogelio |
| description | Abstract Bilateral sensorineural hearing loss is a characteristic feature of Alport syndrome, which is always linked to renal manifestations so they have a parallel evolution and prognosis, and deafness helps to identify the renal disease. We report a family that suffers an autosomal dominant Alport syndrome caused by a previously undescribed mutation in the COL4A3 gene, in which several members have hearing impairment as the only clinical manifestation, suggesting that in this family deafness can occur independent of renal disease. This mutation is also present in a patient with anterior lenticonus, an observation only found in families with recessive and sex-linked Alport disease. |
| doi_str_mv | 10.1016/j.ejmg.2014.10.003 |
| format | Article |
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We report a family that suffers an autosomal dominant Alport syndrome caused by a previously undescribed mutation in the COL4A3 gene, in which several members have hearing impairment as the only clinical manifestation, suggesting that in this family deafness can occur independent of renal disease. 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This mutation is also present in a patient with anterior lenticonus, an observation only found in families with recessive and sex-linked Alport disease.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Alport syndrome</subject><subject>Autoantigens - genetics</subject><subject>Autosomal dominant</subject><subject>COL4A3 gene</subject><subject>Collagen Type IV - genetics</subject><subject>Female</subject><subject>Hearing Loss - genetics</subject><subject>Humans</subject><subject>Lenticonus</subject><subject>Medical Education</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Nephritis, Hereditary - genetics</subject><subject>Young Adult</subject><issn>1769-7212</issn><issn>1878-0849</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9UsuO1DAQjBCIfcAPcEA-ciCDX4kTCSGNRrCsNNIeFiRuluN0Zhwce7CdXc0f8Nk4zLIHDntqq1VV7a7qonhD8IpgUn8YVzBOuxXFhOfGCmP2rDgnjWhK3PD2eX6Lui0FJfSsuIhxzICG0PZlcUYrXuEa0_Pi9xo5uEfTnFQy3iHjUNoD2txs-ZqhHThAAeLBu2g6C2jwAak5-egnZVHvJ-OUS2htDz4kFI-uD36C9-h-b_QeeWePfzWCShDRHlQwboesj3EZlEUAaRWCgRBfFS8GZSO8fqiXxfcvn79tvpbbm6vrzXpb6oqLVDIldNd1Vdsy0rGhrTWjlLOqIw1rcNPXg9YYQHOl1VARUgkBhNJK0aFiTGh2Wbw76R6C_zVDTHIyUYO1yoGfoyQ1Z4QLzHmG0hNUh_zjAIM8BDOpcJQEyyUBOcolAbkksPSywZn09kF_7iboHyn_LM-AjycA5C3v8uoyagNOQ28C6CR7b57W__QfXVvjjFb2Jxwhjn4OLvsniYxUYnm73MByAoRjTFr6g_0BHzOtdw</recordid><startdate>20150101</startdate><enddate>20150101</enddate><creator>Rosado, Consolación</creator><creator>Bueno, Elena</creator><creator>Fraile, Pilar</creator><creator>García-Cosmes, Pedro</creator><creator>González-Sarmiento, Rogelio</creator><general>Elsevier Masson SAS</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>7X8</scope></search><sort><creationdate>20150101</creationdate><title>A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers</title><author>Rosado, Consolación ; Bueno, Elena ; Fraile, Pilar ; García-Cosmes, Pedro ; González-Sarmiento, Rogelio</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c547t-3a7cbbb59931b3f96c322435b183808d6fcc0eec4acaf511577e1225a2f5337c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Alport syndrome</topic><topic>Autoantigens - genetics</topic><topic>Autosomal dominant</topic><topic>COL4A3 gene</topic><topic>Collagen Type IV - genetics</topic><topic>Female</topic><topic>Hearing Loss - genetics</topic><topic>Humans</topic><topic>Lenticonus</topic><topic>Medical Education</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Nephritis, Hereditary - genetics</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rosado, Consolación</creatorcontrib><creatorcontrib>Bueno, Elena</creatorcontrib><creatorcontrib>Fraile, Pilar</creatorcontrib><creatorcontrib>García-Cosmes, Pedro</creatorcontrib><creatorcontrib>González-Sarmiento, Rogelio</creatorcontrib><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><jtitle>European journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rosado, Consolación</au><au>Bueno, Elena</au><au>Fraile, Pilar</au><au>García-Cosmes, Pedro</au><au>González-Sarmiento, Rogelio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers</atitle><jtitle>European journal of medical genetics</jtitle><addtitle>Eur J Med Genet</addtitle><date>2015-01-01</date><risdate>2015</risdate><volume>58</volume><issue>1</issue><spage>35</spage><epage>38</epage><pages>35-38</pages><issn>1769-7212</issn><eissn>1878-0849</eissn><abstract>Abstract Bilateral sensorineural hearing loss is a characteristic feature of Alport syndrome, which is always linked to renal manifestations so they have a parallel evolution and prognosis, and deafness helps to identify the renal disease. 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| fulltext | fulltext |
| identifier | ISSN: 1769-7212 |
| ispartof | European journal of medical genetics, 2015-01, Vol.58 (1), p.35-38 |
| issn | 1769-7212 1878-0849 |
| language | eng |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Adolescent Adult Alport syndrome Autoantigens - genetics Autosomal dominant COL4A3 gene Collagen Type IV - genetics Female Hearing Loss - genetics Humans Lenticonus Medical Education Middle Aged Mutation Nephritis, Hereditary - genetics Young Adult |
| title | A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers |
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