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
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/32308
Acceder
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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 Técnicas2025-10-15T15:33:43Zoai: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:34982025-10-15 15:33:43.976CONICET 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_ 1846083466919149568
score 13.22299

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