ArticleDiagnostic pathology2018
Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas.
Article in Diagnostic pathology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Evolution of cetacean-specific conserved non-coding elements suggests their role in the limb changes during secondary aquatic adaptation.BMC biology · 2025Article
- The molecular characterization of seven novel GLI family zinc finger 3 (Frontiers in genetics · 2025Article
- Pancreas agenesis and fetal growth: a semi-quantitative analysis.Endocrine connections · 2024Review
- A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.Molecular genetics & genomic medicine · 2022Article
- Distinctive functioning of STARD1 in the fetal Leydig cells compared to adult Leydig and adrenal cells. Impact of Hedgehog signaling via the primary cilium.Molecular and cellular endocrinology · 2021Article
- GLI3 resides at the intersection of hedgehog and androgen action to promote male sex differentiation.PLoS genetics · 2020Article
- Lineage-specific roles of hedgehog-GLI signaling during mammalian kidney development.Pediatric nephrology (Berlin, Germany) · 2020Review
- GLI3: a mediator of genetic diseases, development and cancer.Cell communication and signaling : CCS · 2020Review
- Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
7 authors.
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Abstract
backgroundA 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.
conclusionsAlthough 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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