Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2006 |
| Outros Autores: | , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Genetics and Molecular Biology |
| Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400003 |
Resumo: | We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present both in the affected individual and in his clinically normal father. The mutation found in the second family consisted of a deletion of 13 bases, c.764-776del(TTACCCTGACATT), in exon 5. |
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Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrantWaardenburg syndromePAX3 geneincomplete penetrancesensorineural hearing impairmenttelecanthusWe describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present both in the affected individual and in his clinically normal father. The mutation found in the second family consisted of a deletion of 13 bases, c.764-776del(TTACCCTGACATT), in exon 5.Sociedade Brasileira de Genética2006-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400003Genetics and Molecular Biology v.29 n.4 2006reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572006000400003info:eu-repo/semantics/openAccessPardono,ElieteMazzeu,Juliana F.Lezirovitz,KarinaAuricchio,Maria Teresa B.M.Iughetti,PaulaNascimento,Rafaella M.P.Mingroni-Netto,Regina C.Otto,Paulo A.eng2006-11-21T00:00:00Zoai:scielo:S1415-47572006000400003Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2006-11-21T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
| dc.title.none.fl_str_mv |
Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant |
| title |
Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant |
| spellingShingle |
Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant Pardono,Eliete Waardenburg syndrome PAX3 gene incomplete penetrance sensorineural hearing impairment telecanthus |
| title_short |
Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant |
| title_full |
Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant |
| title_fullStr |
Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant |
| title_full_unstemmed |
Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant |
| title_sort |
Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant |
| author |
Pardono,Eliete |
| author_facet |
Pardono,Eliete Mazzeu,Juliana F. Lezirovitz,Karina Auricchio,Maria Teresa B.M. Iughetti,Paula Nascimento,Rafaella M.P. Mingroni-Netto,Regina C. Otto,Paulo A. |
| author_role |
author |
| author2 |
Mazzeu,Juliana F. Lezirovitz,Karina Auricchio,Maria Teresa B.M. Iughetti,Paula Nascimento,Rafaella M.P. Mingroni-Netto,Regina C. Otto,Paulo A. |
| author2_role |
author author author author author author author |
| dc.contributor.author.fl_str_mv |
Pardono,Eliete Mazzeu,Juliana F. Lezirovitz,Karina Auricchio,Maria Teresa B.M. Iughetti,Paula Nascimento,Rafaella M.P. Mingroni-Netto,Regina C. Otto,Paulo A. |
| dc.subject.por.fl_str_mv |
Waardenburg syndrome PAX3 gene incomplete penetrance sensorineural hearing impairment telecanthus |
| topic |
Waardenburg syndrome PAX3 gene incomplete penetrance sensorineural hearing impairment telecanthus |
| description |
We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present both in the affected individual and in his clinically normal father. The mutation found in the second family consisted of a deletion of 13 bases, c.764-776del(TTACCCTGACATT), in exon 5. |
| publishDate |
2006 |
| dc.date.none.fl_str_mv |
2006-01-01 |
| dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400003 |
| url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400003 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
10.1590/S1415-47572006000400003 |
| dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
| eu_rights_str_mv |
openAccess |
| dc.format.none.fl_str_mv |
text/html |
| dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
| publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
| dc.source.none.fl_str_mv |
Genetics and Molecular Biology v.29 n.4 2006 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
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Sociedade Brasileira de Genética (SBG) |
| instacron_str |
SBG |
| institution |
SBG |
| reponame_str |
Genetics and Molecular Biology |
| collection |
Genetics and Molecular Biology |
| repository.name.fl_str_mv |
Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
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||editor@gmb.org.br |
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1752122380237406208 |