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Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas

BACKGROUND: A proper balance between the activator and the repressor form of GLI3, a zinc-finger transcription factor downstream of hedgehog signaling, is essential for proper development of various organs during development. Mutations in different domains of the GLI3 gene underlie several congenita...

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Autores principales: Ito, Saki, Kitazawa, Riko, Haraguchi, Ryuma, Kondo, Takeshi, Ouchi, Ayaka, Ueda, Yasuo, Kitazawa, Sohei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389258/
https://www.ncbi.nlm.nih.gov/pubmed/29368652
http://dx.doi.org/10.1186/s13000-017-0682-8
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author Ito, Saki
Kitazawa, Riko
Haraguchi, Ryuma
Kondo, Takeshi
Ouchi, Ayaka
Ueda, Yasuo
Kitazawa, Sohei
author_facet Ito, Saki
Kitazawa, Riko
Haraguchi, Ryuma
Kondo, Takeshi
Ouchi, Ayaka
Ueda, Yasuo
Kitazawa, Sohei
author_sort Ito, Saki
collection PubMed
description BACKGROUND: A proper balance between the activator and the repressor form of GLI3, a zinc-finger transcription factor downstream of hedgehog signaling, is essential for proper development of various organs during development. Mutations in different domains of the GLI3 gene underlie several congenital diseases including Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). CASE PRESENTATION: Here, we describe the case of an overlapped phenotype of these syndromes with agenesis of the gallbladder and the pancreas, bearing a c.2155 C > T novel likely pathogenic variant of GLI3 gene by missense point mutation causing p.P719S at the proteolytic cleavage site. CONCLUSIONS: Although agenesis of the gallbladder and the pancreas is uncommon in GLI3 morphopathy, a slight difference in the gradient or the balance between activator and repressor in this case may hinder sophisticated spatial and sequential hedgehog signaling that is essential for proper development of gallbladder and pancreas from endodermal buds.
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spelling pubmed-63892582019-03-19 Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas Ito, Saki Kitazawa, Riko Haraguchi, Ryuma Kondo, Takeshi Ouchi, Ayaka Ueda, Yasuo Kitazawa, Sohei Diagn Pathol Case Report BACKGROUND: A proper balance between the activator and the repressor form of GLI3, a zinc-finger transcription factor downstream of hedgehog signaling, is essential for proper development of various organs during development. Mutations in different domains of the GLI3 gene underlie several congenital diseases including Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). CASE PRESENTATION: Here, we describe the case of an overlapped phenotype of these syndromes with agenesis of the gallbladder and the pancreas, bearing a c.2155 C > T novel likely pathogenic variant of GLI3 gene by missense point mutation causing p.P719S at the proteolytic cleavage site. CONCLUSIONS: Although agenesis of the gallbladder and the pancreas is uncommon in GLI3 morphopathy, a slight difference in the gradient or the balance between activator and repressor in this case may hinder sophisticated spatial and sequential hedgehog signaling that is essential for proper development of gallbladder and pancreas from endodermal buds. BioMed Central 2018-01-03 /pmc/articles/PMC6389258/ /pubmed/29368652 http://dx.doi.org/10.1186/s13000-017-0682-8 Text en © The Author(s) 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Ito, Saki
Kitazawa, Riko
Haraguchi, Ryuma
Kondo, Takeshi
Ouchi, Ayaka
Ueda, Yasuo
Kitazawa, Sohei
Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas
title Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas
title_full Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas
title_fullStr Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas
title_full_unstemmed Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas
title_short Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas
title_sort novel gli3 variant causing overlapped greig cephalopolysyndactyly syndrome (gcps) and pallister-hall syndrome (phs) phenotype with agenesis of gallbladder and pancreas
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389258/
https://www.ncbi.nlm.nih.gov/pubmed/29368652
http://dx.doi.org/10.1186/s13000-017-0682-8
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