Damaging variants in FOXI3 cause microtia and craniofacial microsomia
Q1
- Autores:
-
Quiat, Daniel
Timberlake, Andrew T.
Curran, Justin J.
Cunningham, Michael L.
McDonough, Barbara
Artunduaga, Maria A.
DePalma, Steven R.
Duenas-Roque, Milagros M.
Gorham, Joshua M.
Gustafson, Jonas A.
Hamdan, Usama
Hing, Anne V.
Hurtado-Villa, Paula
Nicolau, Yamileth
Osorno, Gabriel
Pachajoa, Harry
Porras-Hurtado, Gloria L.
Quintanilla-Dieck, Lourdes
Serrano, Luis
Tumblin, Melissa
Zarante, Ignacio
Luquetti, Daniela V.
Eavey, Roland D.
Heike, Carrie L.
Seidman, Jonathan G.
Seidman, Christine E.
- Tipo de recurso:
- Informe
- Fecha de publicación:
- 2023
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- eng
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/65325
- Acceso en línea:
- https://www.sciencedirect.com/science/article/pii/S1098360022009418
http://hdl.handle.net/10554/65325
https://doi.org/10.1016/j.gim.2022.09.005
- Palabra clave:
- Craniofacial microsomia
Ectoderm
FOXI3
Microtia
Neural crest
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
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| dc.title.spa.fl_str_mv |
Damaging variants in FOXI3 cause microtia and craniofacial microsomia |
| title |
Damaging variants in FOXI3 cause microtia and craniofacial microsomia |
| spellingShingle |
Damaging variants in FOXI3 cause microtia and craniofacial microsomia Craniofacial microsomia Ectoderm FOXI3 Microtia Neural crest |
| title_short |
Damaging variants in FOXI3 cause microtia and craniofacial microsomia |
| title_full |
Damaging variants in FOXI3 cause microtia and craniofacial microsomia |
| title_fullStr |
Damaging variants in FOXI3 cause microtia and craniofacial microsomia |
| title_full_unstemmed |
Damaging variants in FOXI3 cause microtia and craniofacial microsomia |
| title_sort |
Damaging variants in FOXI3 cause microtia and craniofacial microsomia |
| dc.creator.fl_str_mv |
Quiat, Daniel Timberlake, Andrew T. Curran, Justin J. Cunningham, Michael L. McDonough, Barbara Artunduaga, Maria A. DePalma, Steven R. Duenas-Roque, Milagros M. Gorham, Joshua M. Gustafson, Jonas A. Hamdan, Usama Hing, Anne V. Hurtado-Villa, Paula Nicolau, Yamileth Osorno, Gabriel Pachajoa, Harry Porras-Hurtado, Gloria L. Quintanilla-Dieck, Lourdes Serrano, Luis Tumblin, Melissa Zarante, Ignacio Luquetti, Daniela V. Eavey, Roland D. Heike, Carrie L. Seidman, Jonathan G. Seidman, Christine E. |
| dc.contributor.author.none.fl_str_mv |
Quiat, Daniel Timberlake, Andrew T. Curran, Justin J. Cunningham, Michael L. McDonough, Barbara Artunduaga, Maria A. DePalma, Steven R. Duenas-Roque, Milagros M. Gorham, Joshua M. Gustafson, Jonas A. Hamdan, Usama Hing, Anne V. Hurtado-Villa, Paula Nicolau, Yamileth Osorno, Gabriel Pachajoa, Harry Porras-Hurtado, Gloria L. Quintanilla-Dieck, Lourdes Serrano, Luis Tumblin, Melissa Zarante, Ignacio Luquetti, Daniela V. Eavey, Roland D. Heike, Carrie L. Seidman, Jonathan G. Seidman, Christine E. |
| dc.contributor.corporatename.spa.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana |
| dc.contributor.javerianateacher.none.fl_str_mv |
Zarante, Ignacio |
| dc.subject.keyword.spa.fl_str_mv |
Craniofacial microsomia Ectoderm FOXI3 Microtia Neural crest |
| topic |
Craniofacial microsomia Ectoderm FOXI3 Microtia Neural crest |
| description |
Q1 |
| publishDate |
2023 |
| dc.date.accessioned.none.fl_str_mv |
2023-08-28T16:08:48Z |
| dc.date.available.none.fl_str_mv |
2023-08-28T16:08:48Z |
| dc.date.created.none.fl_str_mv |
2023-01-04 |
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Artículo de revista |
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http://purl.org/coar/resource_type/c_93fc |
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http://purl.org/coar/resource_type/c_93fc |
| dc.identifier.spa.fl_str_mv |
https://www.sciencedirect.com/science/article/pii/S1098360022009418 |
| dc.identifier.issn.spa.fl_str_mv |
1098-3600 / 1530-0366 (Electrónico) |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10554/65325 |
| dc.identifier.doi.spa.fl_str_mv |
https://doi.org/10.1016/j.gim.2022.09.005 |
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instname:Pontificia Universidad Javeriana |
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reponame:Repositorio Institucional - Pontificia Universidad Javeriana |
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repourl:https://repository.javeriana.edu.co |
| url |
https://www.sciencedirect.com/science/article/pii/S1098360022009418 http://hdl.handle.net/10554/65325 https://doi.org/10.1016/j.gim.2022.09.005 |
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1098-3600 / 1530-0366 (Electrónico) instname:Pontificia Universidad Javeriana reponame:Repositorio Institucional - Pontificia Universidad Javeriana repourl:https://repository.javeriana.edu.co |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
| dc.relation.citationstartpage.spa.fl_str_mv |
143 |
| dc.relation.citationendpage.spa.fl_str_mv |
150 |
| dc.relation.ispartofjournal.spa.fl_str_mv |
Genetics in Medicine |
| dc.relation.citationvolume.spa.fl_str_mv |
25 |
| dc.relation.citationissue.spa.fl_str_mv |
1 |
| dc.rights.licence.*.fl_str_mv |
Atribución-NoComercial 4.0 Internacional |
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http://creativecommons.org/licenses/by-nc/4.0/ |
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http://purl.org/coar/access_right/c_abf2 |
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Atribución-NoComercial 4.0 Internacional http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
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PDF |
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2009-2020 |
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Pontificia Universidad Javeriana |
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repositorio@javeriana.edu.co |
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Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Quiat, DanielTimberlake, Andrew T.Curran, Justin J.Cunningham, Michael L.McDonough, BarbaraArtunduaga, Maria A.DePalma, Steven R.Duenas-Roque, Milagros M.Gorham, Joshua M.Gustafson, Jonas A.Hamdan, UsamaHing, Anne V.Hurtado-Villa, PaulaNicolau, YamilethOsorno, GabrielPachajoa, HarryPorras-Hurtado, Gloria L.Quintanilla-Dieck, LourdesSerrano, LuisTumblin, MelissaZarante, IgnacioLuquetti, Daniela V.Eavey, Roland D.Heike, Carrie L.Seidman, Jonathan G.Seidman, Christine E.Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaZarante, Ignacio2009-20202023-08-28T16:08:48Z2023-08-28T16:08:48Z2023-01-04https://www.sciencedirect.com/science/article/pii/S10983600220094181098-3600 / 1530-0366 (Electrónico)http://hdl.handle.net/10554/65325https://doi.org/10.1016/j.gim.2022.09.005instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coPDFapplication/pdfengDamaging variants in FOXI3 cause microtia and craniofacial microsomiaArtículo de revistahttp://purl.org/coar/resource_type/c_93fcQ1Q1Pacientes con Microtia y Microsomía craneofacialPurpose: Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. The genetic causes of CFM remain largely unknown. Methods: We performed genome sequencing and linkage analysis in patients and families with microtia and CFM of unknown genetic etiology. The functional consequences of damaging missense variants were evaluated through expression of wild-type and mutant proteins in vitro. Results: We studied a 5-generation kindred with microtia, identifying a missense variant in FOXI3 (p.Arg236Trp) as the cause of disease (logarithm of the odds = 3.33). We subsequently identified 6 individuals from 3 additional kindreds with microtia-CFM spectrum phenotypes harboring damaging variants in FOXI3, a regulator of ectodermal and neural crest development. Missense variants in the nuclear localization sequence were identified in cases with isolated microtia with aural atresia and found to affect subcellular localization of FOXI3. Loss of function variants were found in patients with microtia and mandibular hypoplasia (CFM), suggesting dosage sensitivity of FOXI3. Conclusion: Damaging variants in FOXI3 are the second most frequent genetic cause of CFM, causing 1% of all cases, including 13% of familial cases in our cohort.https://orcid.org/0000-0003-3822-7780https://orcid.org/0000-0002-0729-6866Revista Internacional - IndexadaA1NoCraniofacial microsomiaEctodermFOXI3MicrotiaNeural crest143150Genetics in Medicine251ORIGINALDamaging variants in FOXI3 cause microtia and craniofacial microsomia.pdfDamaging variants in FOXI3 cause microtia and craniofacial microsomia.pdfArtículoapplication/pdf1633293http://repository.javeriana.edu.co/bitstream/10554/65325/1/Damaging%20variants%20in%20FOXI3%20cause%20microtia%20and%20craniofacial%20microsomia.pdf68fb6f85297e3cff31975f480e0d89a6MD51open accessLICENSElicense.txtlicense.txttext/plain; charset=utf-82603http://repository.javeriana.edu.co/bitstream/10554/65325/2/license.txt2070d280cc89439d983d9eee1b17df53MD52open accessTHUMBNAILDamaging variants in FOXI3 cause microtia and craniofacial microsomia.pdf.jpgDamaging variants in FOXI3 cause microtia and craniofacial microsomia.pdf.jpgIM Thumbnailimage/jpeg10550http://repository.javeriana.edu.co/bitstream/10554/65325/3/Damaging%20variants%20in%20FOXI3%20cause%20microtia%20and%20craniofacial%20microsomia.pdf.jpg913151d26aba11b0ca74b4d6f4d7b5faMD53open access10554/65325oai:repository.javeriana.edu.co:10554/653252023-08-29 03:04:35.314Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.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 |