Ocular and craniofacial phenotypes in a largeBrazilian family with congenital aniridia
- Autores
- Fernandes Lima, Z.S.; Paixão-Côrtes, V.R.; de Andrade, A.K.M.; Fernandes, A.S.; Coronado, B.N.L.; Monte Filho, H.P.; Santos, M.J.; Omena Filho, R.L.; Biondi, Facundo Carmelo; Ruiz Linares, A.; Ramallo, Virginia; Hunemeier, T.; Schuler Faccini, L.; Monlleo, I.L.
- Año de publicación
- 2014
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Congenital aniridia is a rare genetic disorder characterized by varying degrees of iris hypoplasia that are associated with additional ocular abnormalities. More than 90% of the causal mutations identified are found in the PAX6 gene, a transcription factor of critical importance in the process of neurogenesis and ocular development. Here, we investigate clinical, molecular, and craniofacial features of a large Brazilian family with congenital aniridia. Among the 56 eyes evaluated, phenotype variation encompassed bilateral total aniridia to mild iris defects with extensive variation between eyes of the same individual. PAX6 molecular screening indicated a heterozygous splice mutation (c.141 + 1G>A). Thus, we hypothesize that this splicing event may cause variation in the expression of the wild-type transcript, which may lead to the observed variation in phenotype. Affected individuals were more brachycephalic, even though their face height and cephalic circumference were not significantly different when compared to those of non-affected relatives. From this, we infer that the head shape of affected subjects may also be a result of the PAX6 splice-site mutation. Our data summarize the clinical variability associated with the ocular phenotype in a large family with aniridia, and help shed light on the role of PAX6 in neurocranial development.
Fil: Fernandes Lima, Z.S.. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Paixão-Côrtes, V.R.. Universidade Federal do Rio Grande do Sul; Brasil
Fil: de Andrade, A.K.M.. Faculdade de Medicina; Brasil
Fil: Fernandes, A.S.. Universidade Federal de Alagoas; Brasil
Fil: Coronado, B.N.L.. Universidade Federal de Alagoas; Brasil
Fil: Monte Filho, H.P.. Universidade Federal de Alagoas; Brasil
Fil: Santos, M.J.. Universidade Federal de Alagoas; Brasil
Fil: Omena Filho, R.L.. Universidade Federal de Alagoas; Brasil
Fil: Biondi, Facundo Carmelo. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Ruiz Linares, A.. University College London; Estados Unidos
Fil: Ramallo, Virginia. Universidade Federal do Rio Grande do Sul; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Hunemeier, T.. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Schuler Faccini, L.. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Monlleo, I.L.. Universidade Federal de Alagoas; Brasil - Materia
-
Aniridia
Autosomal Dominant
Neurocranium
Pax6 - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/32308
Ver los metadatos del registro completo
id |
CONICETDig_892f44ff08ae46d91efe0406508b946a |
---|---|
oai_identifier_str |
oai:ri.conicet.gov.ar:11336/32308 |
network_acronym_str |
CONICETDig |
repository_id_str |
3498 |
network_name_str |
CONICET Digital (CONICET) |
spelling |
Ocular and craniofacial phenotypes in a largeBrazilian family with congenital aniridiaFernandes Lima, Z.S.Paixão-Côrtes, V.R.de Andrade, A.K.M.Fernandes, A.S.Coronado, B.N.L.Monte Filho, H.P.Santos, M.J.Omena Filho, R.L.Biondi, Facundo CarmeloRuiz Linares, A.Ramallo, VirginiaHunemeier, T.Schuler Faccini, L.Monlleo, I.L.AniridiaAutosomal DominantNeurocraniumPax6https://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Congenital aniridia is a rare genetic disorder characterized by varying degrees of iris hypoplasia that are associated with additional ocular abnormalities. More than 90% of the causal mutations identified are found in the PAX6 gene, a transcription factor of critical importance in the process of neurogenesis and ocular development. Here, we investigate clinical, molecular, and craniofacial features of a large Brazilian family with congenital aniridia. Among the 56 eyes evaluated, phenotype variation encompassed bilateral total aniridia to mild iris defects with extensive variation between eyes of the same individual. PAX6 molecular screening indicated a heterozygous splice mutation (c.141 + 1G>A). Thus, we hypothesize that this splicing event may cause variation in the expression of the wild-type transcript, which may lead to the observed variation in phenotype. Affected individuals were more brachycephalic, even though their face height and cephalic circumference were not significantly different when compared to those of non-affected relatives. From this, we infer that the head shape of affected subjects may also be a result of the PAX6 splice-site mutation. Our data summarize the clinical variability associated with the ocular phenotype in a large family with aniridia, and help shed light on the role of PAX6 in neurocranial development.Fil: Fernandes Lima, Z.S.. Universidade Federal do Rio Grande do Sul; BrasilFil: Paixão-Côrtes, V.R.. Universidade Federal do Rio Grande do Sul; BrasilFil: de Andrade, A.K.M.. Faculdade de Medicina; BrasilFil: Fernandes, A.S.. Universidade Federal de Alagoas; BrasilFil: Coronado, B.N.L.. Universidade Federal de Alagoas; BrasilFil: Monte Filho, H.P.. Universidade Federal de Alagoas; BrasilFil: Santos, M.J.. Universidade Federal de Alagoas; BrasilFil: Omena Filho, R.L.. Universidade Federal de Alagoas; BrasilFil: Biondi, Facundo Carmelo. Universidade Federal do Rio Grande do Sul; BrasilFil: Ruiz Linares, A.. University College London; Estados UnidosFil: Ramallo, Virginia. Universidade Federal do Rio Grande do Sul; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Hunemeier, T.. Universidade Federal do Rio Grande do Sul; BrasilFil: Schuler Faccini, L.. Universidade Federal do Rio Grande do Sul; BrasilFil: Monlleo, I.L.. Universidade Federal de Alagoas; BrasilWiley Blackwell Publishing, Inc2014-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/32308Monlleo, I.L.; Schuler Faccini, L.; Hunemeier, T.; Ramallo, Virginia; Ruiz Linares, A.; Biondi, Facundo Carmelo; et al.; Ocular and craniofacial phenotypes in a largeBrazilian family with congenital aniridia; Wiley Blackwell Publishing, Inc; Clinical Genetics; 87; 1; 1-2014; 68-730009-9163CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1111/cge.12329info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:36:08Zoai:ri.conicet.gov.ar:11336/32308instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:36:08.988CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Ocular and craniofacial phenotypes in a largeBrazilian family with congenital aniridia |
title |
Ocular and craniofacial phenotypes in a largeBrazilian family with congenital aniridia |
spellingShingle |
Ocular and craniofacial phenotypes in a largeBrazilian family with congenital aniridia Fernandes Lima, Z.S. Aniridia Autosomal Dominant Neurocranium Pax6 |
title_short |
Ocular and craniofacial phenotypes in a largeBrazilian family with congenital aniridia |
title_full |
Ocular and craniofacial phenotypes in a largeBrazilian family with congenital aniridia |
title_fullStr |
Ocular and craniofacial phenotypes in a largeBrazilian family with congenital aniridia |
title_full_unstemmed |
Ocular and craniofacial phenotypes in a largeBrazilian family with congenital aniridia |
title_sort |
Ocular and craniofacial phenotypes in a largeBrazilian family with congenital aniridia |
dc.creator.none.fl_str_mv |
Fernandes Lima, Z.S. Paixão-Côrtes, V.R. de Andrade, A.K.M. Fernandes, A.S. Coronado, B.N.L. Monte Filho, H.P. Santos, M.J. Omena Filho, R.L. Biondi, Facundo Carmelo Ruiz Linares, A. Ramallo, Virginia Hunemeier, T. Schuler Faccini, L. Monlleo, I.L. |
author |
Fernandes Lima, Z.S. |
author_facet |
Fernandes Lima, Z.S. Paixão-Côrtes, V.R. de Andrade, A.K.M. Fernandes, A.S. Coronado, B.N.L. Monte Filho, H.P. Santos, M.J. Omena Filho, R.L. Biondi, Facundo Carmelo Ruiz Linares, A. Ramallo, Virginia Hunemeier, T. Schuler Faccini, L. Monlleo, I.L. |
author_role |
author |
author2 |
Paixão-Côrtes, V.R. de Andrade, A.K.M. Fernandes, A.S. Coronado, B.N.L. Monte Filho, H.P. Santos, M.J. Omena Filho, R.L. Biondi, Facundo Carmelo Ruiz Linares, A. Ramallo, Virginia Hunemeier, T. Schuler Faccini, L. Monlleo, I.L. |
author2_role |
author author author author author author author author author author author author author |
dc.subject.none.fl_str_mv |
Aniridia Autosomal Dominant Neurocranium Pax6 |
topic |
Aniridia Autosomal Dominant Neurocranium Pax6 |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.1 https://purl.org/becyt/ford/3 |
dc.description.none.fl_txt_mv |
Congenital aniridia is a rare genetic disorder characterized by varying degrees of iris hypoplasia that are associated with additional ocular abnormalities. More than 90% of the causal mutations identified are found in the PAX6 gene, a transcription factor of critical importance in the process of neurogenesis and ocular development. Here, we investigate clinical, molecular, and craniofacial features of a large Brazilian family with congenital aniridia. Among the 56 eyes evaluated, phenotype variation encompassed bilateral total aniridia to mild iris defects with extensive variation between eyes of the same individual. PAX6 molecular screening indicated a heterozygous splice mutation (c.141 + 1G>A). Thus, we hypothesize that this splicing event may cause variation in the expression of the wild-type transcript, which may lead to the observed variation in phenotype. Affected individuals were more brachycephalic, even though their face height and cephalic circumference were not significantly different when compared to those of non-affected relatives. From this, we infer that the head shape of affected subjects may also be a result of the PAX6 splice-site mutation. Our data summarize the clinical variability associated with the ocular phenotype in a large family with aniridia, and help shed light on the role of PAX6 in neurocranial development. Fil: Fernandes Lima, Z.S.. Universidade Federal do Rio Grande do Sul; Brasil Fil: Paixão-Côrtes, V.R.. Universidade Federal do Rio Grande do Sul; Brasil Fil: de Andrade, A.K.M.. Faculdade de Medicina; Brasil Fil: Fernandes, A.S.. Universidade Federal de Alagoas; Brasil Fil: Coronado, B.N.L.. Universidade Federal de Alagoas; Brasil Fil: Monte Filho, H.P.. Universidade Federal de Alagoas; Brasil Fil: Santos, M.J.. Universidade Federal de Alagoas; Brasil Fil: Omena Filho, R.L.. Universidade Federal de Alagoas; Brasil Fil: Biondi, Facundo Carmelo. Universidade Federal do Rio Grande do Sul; Brasil Fil: Ruiz Linares, A.. University College London; Estados Unidos Fil: Ramallo, Virginia. Universidade Federal do Rio Grande do Sul; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Hunemeier, T.. Universidade Federal do Rio Grande do Sul; Brasil Fil: Schuler Faccini, L.. Universidade Federal do Rio Grande do Sul; Brasil Fil: Monlleo, I.L.. Universidade Federal de Alagoas; Brasil |
description |
Congenital aniridia is a rare genetic disorder characterized by varying degrees of iris hypoplasia that are associated with additional ocular abnormalities. More than 90% of the causal mutations identified are found in the PAX6 gene, a transcription factor of critical importance in the process of neurogenesis and ocular development. Here, we investigate clinical, molecular, and craniofacial features of a large Brazilian family with congenital aniridia. Among the 56 eyes evaluated, phenotype variation encompassed bilateral total aniridia to mild iris defects with extensive variation between eyes of the same individual. PAX6 molecular screening indicated a heterozygous splice mutation (c.141 + 1G>A). Thus, we hypothesize that this splicing event may cause variation in the expression of the wild-type transcript, which may lead to the observed variation in phenotype. Affected individuals were more brachycephalic, even though their face height and cephalic circumference were not significantly different when compared to those of non-affected relatives. From this, we infer that the head shape of affected subjects may also be a result of the PAX6 splice-site mutation. Our data summarize the clinical variability associated with the ocular phenotype in a large family with aniridia, and help shed light on the role of PAX6 in neurocranial development. |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-01 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/32308 Monlleo, I.L.; Schuler Faccini, L.; Hunemeier, T.; Ramallo, Virginia; Ruiz Linares, A.; Biondi, Facundo Carmelo; et al.; Ocular and craniofacial phenotypes in a largeBrazilian family with congenital aniridia; Wiley Blackwell Publishing, Inc; Clinical Genetics; 87; 1; 1-2014; 68-73 0009-9163 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/32308 |
identifier_str_mv |
Monlleo, I.L.; Schuler Faccini, L.; Hunemeier, T.; Ramallo, Virginia; Ruiz Linares, A.; Biondi, Facundo Carmelo; et al.; Ocular and craniofacial phenotypes in a largeBrazilian family with congenital aniridia; Wiley Blackwell Publishing, Inc; Clinical Genetics; 87; 1; 1-2014; 68-73 0009-9163 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.12329 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Wiley Blackwell Publishing, Inc |
publisher.none.fl_str_mv |
Wiley Blackwell Publishing, Inc |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
reponame_str |
CONICET Digital (CONICET) |
collection |
CONICET Digital (CONICET) |
instname_str |
Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.name.fl_str_mv |
CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
_version_ |
1844614381140180992 |
score |
13.070432 |