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

• 近藤, 武史

• Ouchi, Ayaka

• Ueda, Yasuo

• Kitazawa, Sohei

抄録

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.

収録刊行物

• Diagnostic Pathology

  Diagnostic Pathology 13 1-1, 2018-01-03

  BioMed Central

キーワード

• GLI3
• Hedgehog
• Greig cephalopolysyndactyly syndrome
• Pallister-hall syndrome

詳細情報

• CRID: 1050856995323609856
• NII論文ID: 120006425668
• DOI: 10.1186/s13000-017-0682-8
• ISSN: 17461596
• HANDLE: 20.500.14094/90004726
• Web Site: http://link.springer.com/content/pdf/10.1186/s13000-017-0682-8.pdf
• 本文言語コード: en
• 資料種別: journal article
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