Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas
Abstract 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 c...
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doaj-7c7017225d254d07b93ea986d7eaefa32020-11-25T00:14:43ZengBMCDiagnostic Pathology1746-15962018-01-011311410.1186/s13000-017-0682-8Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreasSaki Ito0Riko Kitazawa1Ryuma Haraguchi2Takeshi Kondo3Ayaka Ouchi4Yasuo Ueda5Sohei Kitazawa6Department of Molecular Pathology, Ehime University Graduate School of MedicineDepartment of Molecular Pathology, Ehime University Graduate School of MedicineDepartment of Molecular Pathology, Ehime University Graduate School of MedicineDivision of Legal Medicine, Kobe University Graduate School of MedicineDepartment of Molecular Pathology, Ehime University Graduate School of MedicineDepartment of Molecular Pathology, Ehime University Graduate School of MedicineDepartment of Molecular Pathology, Ehime University Graduate School of MedicineAbstract 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.http://link.springer.com/article/10.1186/s13000-017-0682-8GLI3HedgehogGreig cephalopolysyndactyly syndromePallister-hall syndrome |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Saki Ito Riko Kitazawa Ryuma Haraguchi Takeshi Kondo Ayaka Ouchi Yasuo Ueda Sohei Kitazawa |
spellingShingle |
Saki Ito Riko Kitazawa Ryuma Haraguchi Takeshi Kondo Ayaka Ouchi Yasuo Ueda Sohei Kitazawa Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas Diagnostic Pathology GLI3 Hedgehog Greig cephalopolysyndactyly syndrome Pallister-hall syndrome |
author_facet |
Saki Ito Riko Kitazawa Ryuma Haraguchi Takeshi Kondo Ayaka Ouchi Yasuo Ueda Sohei Kitazawa |
author_sort |
Saki Ito |
title |
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_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_sort |
novel gli3 variant causing overlapped greig cephalopolysyndactyly syndrome (gcps) and pallister-hall syndrome (phs) phenotype with agenesis of gallbladder and pancreas |
publisher |
BMC |
series |
Diagnostic Pathology |
issn |
1746-1596 |
publishDate |
2018-01-01 |
description |
Abstract 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. |
topic |
GLI3 Hedgehog Greig cephalopolysyndactyly syndrome Pallister-hall syndrome |
url |
http://link.springer.com/article/10.1186/s13000-017-0682-8 |
work_keys_str_mv |
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