Targeted resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association
The VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. As mutations in ciliary genes were observed in d...
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| مؤلفون آخرون: | , , , , , |
| التنسيق: | article |
| منشور في: |
2015
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| الوصول للمادة أونلاين: | http://hdl.handle.net/10725/6199 http://dx.doi.org/10.1002/humu.22859 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://onlinelibrary.wiley.com/doi/10.1002/humu.22859/full |
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| _version_ | 1864513478894551040 |
|---|---|
| author | El Maarri, Osman |
| author2 | Hilger, Alina C. Halbritter, Jan Pennimpede, Tracie Sarma, Georgia Braun, Daniela A. Kohl, Stefan |
| author2_role | author author author author author author |
| author_facet | El Maarri, Osman Hilger, Alina C. Halbritter, Jan Pennimpede, Tracie Sarma, Georgia Braun, Daniela A. Kohl, Stefan |
| author_role | author |
| dc.creator.none.fl_str_mv | El Maarri, Osman Hilger, Alina C. Halbritter, Jan Pennimpede, Tracie Sarma, Georgia Braun, Daniela A. Kohl, Stefan |
| dc.date.none.fl_str_mv | 2015 2017-09-15T07:10:02Z 2017-09-15T07:10:02Z 2017-09-15 |
| dc.identifier.none.fl_str_mv | 1098-1004 http://hdl.handle.net/10725/6199 http://dx.doi.org/10.1002/humu.22859 Hilger, A. C., Halbritter, J., Pennimpede, T., Ven, A., Sarma, G., Braun, D. A., ... & Hermann, B. G. (2015). Targeted resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association. Human mutation, 36(12), 1150-1154. http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://onlinelibrary.wiley.com/doi/10.1002/humu.22859/full |
| dc.language.none.fl_str_mv | en |
| dc.relation.none.fl_str_mv | Human Mutation |
| dc.rights.*.fl_str_mv | info:eu-repo/semantics/openAccess |
| dc.title.none.fl_str_mv | Targeted resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association |
| dc.type.none.fl_str_mv | Article info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/article |
| description | The VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. As mutations in ciliary genes were observed in diseases related to VATER/VACTERL, we performed targeted resequencing of 25 ciliary candidate genes as well as disease-associated genes (FOXF1, HOXD13, PTEN, ZIC3) in 123 patients with VATER/VACTERL or VATER/VACTERL-like phenotype. We detected no biallelic mutation in any of the 25 ciliary candidate genes; however, identified an identical, probably disease-causing ZIC3 missense mutation (p.Gly17Cys) in four patients and a FOXF1 de novo mutation (p.Gly220Cys) in a further patient. In situ hybridization analyses in mouse embryos between E9.5 and E14.5 revealed Zic3 expression in limb and prevertebral structures, and Foxf1 expression in esophageal, tracheal, vertebral, anal, and genital tubercle tissues, hence VATER/VACTERL organ systems. These data provide strong evidence that mutations in ZIC3 or FOXF1 contribute to VATER/VACTERL. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | LAURepo_0aab2beaa7893fe4207280fc7f495df3 |
| identifier_str_mv | 1098-1004 Hilger, A. C., Halbritter, J., Pennimpede, T., Ven, A., Sarma, G., Braun, D. A., ... & Hermann, B. G. (2015). Targeted resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association. Human mutation, 36(12), 1150-1154. |
| language_invalid_str_mv | en |
| network_acronym_str | LAURepo |
| network_name_str | Lebanese American University repository |
| oai_identifier_str | oai:laur.lau.edu.lb:10725/6199 |
| publishDate | 2015 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| spelling | Targeted resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL associationEl Maarri, OsmanHilger, Alina C.Halbritter, JanPennimpede, TracieSarma, GeorgiaBraun, Daniela A.Kohl, StefanThe VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. As mutations in ciliary genes were observed in diseases related to VATER/VACTERL, we performed targeted resequencing of 25 ciliary candidate genes as well as disease-associated genes (FOXF1, HOXD13, PTEN, ZIC3) in 123 patients with VATER/VACTERL or VATER/VACTERL-like phenotype. We detected no biallelic mutation in any of the 25 ciliary candidate genes; however, identified an identical, probably disease-causing ZIC3 missense mutation (p.Gly17Cys) in four patients and a FOXF1 de novo mutation (p.Gly220Cys) in a further patient. In situ hybridization analyses in mouse embryos between E9.5 and E14.5 revealed Zic3 expression in limb and prevertebral structures, and Foxf1 expression in esophageal, tracheal, vertebral, anal, and genital tubercle tissues, hence VATER/VACTERL organ systems. These data provide strong evidence that mutations in ZIC3 or FOXF1 contribute to VATER/VACTERL.PublishedN/A2017-09-15T07:10:02Z2017-09-15T07:10:02Z20152017-09-15Articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article1098-1004http://hdl.handle.net/10725/6199http://dx.doi.org/10.1002/humu.22859Hilger, A. C., Halbritter, J., Pennimpede, T., Ven, A., Sarma, G., Braun, D. A., ... & Hermann, B. G. (2015). Targeted resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association. Human mutation, 36(12), 1150-1154.http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.phphttp://onlinelibrary.wiley.com/doi/10.1002/humu.22859/fullenHuman Mutationinfo:eu-repo/semantics/openAccessoai:laur.lau.edu.lb:10725/61992021-03-19T10:43:12Z |
| spellingShingle | Targeted resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association El Maarri, Osman |
| status_str | publishedVersion |
| title | Targeted resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association |
| title_full | Targeted resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association |
| title_fullStr | Targeted resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association |
| title_full_unstemmed | Targeted resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association |
| title_short | Targeted resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association |
| title_sort | Targeted resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association |
| url | http://hdl.handle.net/10725/6199 http://dx.doi.org/10.1002/humu.22859 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://onlinelibrary.wiley.com/doi/10.1002/humu.22859/full |