Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palate
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 t...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2008-01-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400008 |
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| author | Mehmet A. Sözen Jacqueline T. Hecht Richard A. Spritz |
| author_facet | Mehmet A. Sözen Jacqueline T. Hecht Richard A. Spritz |
| author_sort | Mehmet A. Sözen |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-22T09:01:00Z |
| format | Article |
| id | doaj.art-bcf88a1eff1045b4bc0211fc1e3590b8 |
| institution | Directory Open Access Journal |
| issn | 1415-4757 1678-4685 |
| language | English |
| last_indexed | 2024-12-22T09:01:00Z |
| publishDate | 2008-01-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-bcf88a1eff1045b4bc0211fc1e3590b82022-12-21T18:31:43ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852008-01-0131364965010.1590/S1415-47572008000400008Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palateMehmet A. SözenJacqueline T. HechtRichard A. SpritzCleft 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400008orofacial cleftsnectinsPVRL3mutation analysis |
| spellingShingle | Mehmet A. Sözen Jacqueline T. Hecht Richard A. Spritz Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palate Genetics and Molecular Biology orofacial clefts nectins PVRL3 mutation analysis |
| title | 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_short | 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 |
| topic | orofacial clefts nectins PVRL3 mutation analysis |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400008 |
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