Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palate

Detalhes bibliográficos
Autor(a) principal: Sözen,Mehmet A.
Data de Publicação: 2008
Outros Autores: Hecht,Jacqueline T., Spritz,Richard A.
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=S1415-47572008000400008
Resumo: Cleft lip with or without cleft palate (CLP) is one of the most common birth defects. In about 70% of cases, CLP occurs as an isolated anomaly, denoted non-syndromic CLP (nsCLP). Genetic linkage and association studies have implicated many loci in susceptibility to nsCLP, including some members of the nectin gene family. We performed mutation screening of the PVRL3 gene that encodes nectin-3 in 73 unrelated Caucasian nsCLP patients and 105 unrelated controls from North America. We detected no sequence variants in the PVRL3 gene in either the nsCLP patients or the controls. These data suggest that PVRL3 is not an important susceptibility gene for nsCLP in the North American Caucasian population.
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spelling Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palateorofacial cleftsnectinsPVRL3mutation analysisCleft lip with or without cleft palate (CLP) is one of the most common birth defects. In about 70% of cases, CLP occurs as an isolated anomaly, denoted non-syndromic CLP (nsCLP). Genetic linkage and association studies have implicated many loci in susceptibility to nsCLP, including some members of the nectin gene family. We performed mutation screening of the PVRL3 gene that encodes nectin-3 in 73 unrelated Caucasian nsCLP patients and 105 unrelated controls from North America. We detected no sequence variants in the PVRL3 gene in either the nsCLP patients or the controls. These data suggest that PVRL3 is not an important susceptibility gene for nsCLP in the North American Caucasian population.Sociedade Brasileira de Genética2008-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400008Genetics and Molecular Biology v.31 n.3 2008reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572008000400008info:eu-repo/semantics/openAccessSözen,Mehmet A.Hecht,Jacqueline T.Spritz,Richard A.eng2008-08-18T00:00:00Zoai:scielo:S1415-47572008000400008Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2008-08-18T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palate
title Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palate
spellingShingle Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palate
Sözen,Mehmet A.
orofacial clefts
nectins
PVRL3
mutation analysis
title_short Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palate
title_full Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palate
title_fullStr Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palate
title_full_unstemmed Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palate
title_sort Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palate
author Sözen,Mehmet A.
author_facet Sözen,Mehmet A.
Hecht,Jacqueline T.
Spritz,Richard A.
author_role author
author2 Hecht,Jacqueline T.
Spritz,Richard A.
author2_role author
author
dc.contributor.author.fl_str_mv Sözen,Mehmet A.
Hecht,Jacqueline T.
Spritz,Richard A.
dc.subject.por.fl_str_mv orofacial clefts
nectins
PVRL3
mutation analysis
topic orofacial clefts
nectins
PVRL3
mutation analysis
description Cleft lip with or without cleft palate (CLP) is one of the most common birth defects. In about 70% of cases, CLP occurs as an isolated anomaly, denoted non-syndromic CLP (nsCLP). Genetic linkage and association studies have implicated many loci in susceptibility to nsCLP, including some members of the nectin gene family. We performed mutation screening of the PVRL3 gene that encodes nectin-3 in 73 unrelated Caucasian nsCLP patients and 105 unrelated controls from North America. We detected no sequence variants in the PVRL3 gene in either the nsCLP patients or the controls. These data suggest that PVRL3 is not an important susceptibility gene for nsCLP in the North American Caucasian population.
publishDate 2008
dc.date.none.fl_str_mv 2008-01-01
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=S1415-47572008000400008
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400008
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572008000400008
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.31 n.3 2008
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str 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)
repository.mail.fl_str_mv ||editor@gmb.org.br
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