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Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations

The pituitary gland produces hormones that play important roles in both the development and homeostasis of the body. Ontogeny of the anterior and posterior pituitary is orchestrated by inputs from neighboring tissues, cellular signaling molecules and transcription factors. Disruption of expression o...

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Autores principales: Tajima, Toshihiro, Ishizu, Katsura, Nakamura, Akie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756183/
https://www.ncbi.nlm.nih.gov/pubmed/23990694
http://dx.doi.org/10.1297/cpe.22.15
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author Tajima, Toshihiro
Ishizu, Katsura
Nakamura, Akie
author_facet Tajima, Toshihiro
Ishizu, Katsura
Nakamura, Akie
author_sort Tajima, Toshihiro
collection PubMed
description The pituitary gland produces hormones that play important roles in both the development and homeostasis of the body. Ontogeny of the anterior and posterior pituitary is orchestrated by inputs from neighboring tissues, cellular signaling molecules and transcription factors. Disruption of expression or function of these factors has been implicated in the etiology of combined pituitary hormone deficiency (CPHD). These include the transcription factors HESX1, PROP1, POU1F1, LHX3, LHX4, OTX2, SOX2, SOX3 and GLI2. This review focuses on summarizing most recent mutations in LHX4 and OTX2 responsible for pituitary hormone deficiency. In both genetic defects of LHX4 and OTX2, there is high variability in clinical manifestations even in the same family. In addition, there is no clear phenotype-genotype correlation. These findings indicate that the other genetic and/or environmental factors influence the phenotype. In addition, the variability might reflect a plasticity during pituitary development and maintenance. Over the past two decades, a genetic basis for pituitary hormone deficiency and the mechanism of pituitary development have been clarified. It should be kept in mind that this review is not comprehensive, and defects of other transcriptional factors have been described in patients with CPHD. Furthermore, the causes in many patients with CPHD have not yet been determined. Therefore, continuing efforts for the clarification of the etiology are necessary.
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spelling pubmed-37561832013-08-29 Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations Tajima, Toshihiro Ishizu, Katsura Nakamura, Akie Clin Pediatr Endocrinol Review Article The pituitary gland produces hormones that play important roles in both the development and homeostasis of the body. Ontogeny of the anterior and posterior pituitary is orchestrated by inputs from neighboring tissues, cellular signaling molecules and transcription factors. Disruption of expression or function of these factors has been implicated in the etiology of combined pituitary hormone deficiency (CPHD). These include the transcription factors HESX1, PROP1, POU1F1, LHX3, LHX4, OTX2, SOX2, SOX3 and GLI2. This review focuses on summarizing most recent mutations in LHX4 and OTX2 responsible for pituitary hormone deficiency. In both genetic defects of LHX4 and OTX2, there is high variability in clinical manifestations even in the same family. In addition, there is no clear phenotype-genotype correlation. These findings indicate that the other genetic and/or environmental factors influence the phenotype. In addition, the variability might reflect a plasticity during pituitary development and maintenance. Over the past two decades, a genetic basis for pituitary hormone deficiency and the mechanism of pituitary development have been clarified. It should be kept in mind that this review is not comprehensive, and defects of other transcriptional factors have been described in patients with CPHD. Furthermore, the causes in many patients with CPHD have not yet been determined. Therefore, continuing efforts for the clarification of the etiology are necessary. The Japanese Society for Pediatric Endocrinology 2013-04-26 2013-04 /pmc/articles/PMC3756183/ /pubmed/23990694 http://dx.doi.org/10.1297/cpe.22.15 Text en 2013©The Japanese Society for Pediatric Endocrinology http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License.
spellingShingle Review Article
Tajima, Toshihiro
Ishizu, Katsura
Nakamura, Akie
Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations
title Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations
title_full Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations
title_fullStr Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations
title_full_unstemmed Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations
title_short Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations
title_sort molecular and clinical findings in patients with lhx4 and otx2 mutations
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756183/
https://www.ncbi.nlm.nih.gov/pubmed/23990694
http://dx.doi.org/10.1297/cpe.22.15
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