A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly.

07:00 EST 18th December 2018 | BioPortfolio

Summary of "A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly."

GLI3 encodes a transcription factor in the sonic hedgehog signaling pathway, which is essential in regulating the human limb bud development, especially on the anteroposterior axis. Mutations in GLI3 have been confirmed to be associated with various human congenital malformations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, and isolated polydactyly. A robust gene-phenotype relationship between GLI3 and Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome has been well elucidated, and less is known about GLI3 mutation-caused isolated polydactyly. This study intended to perform a mutation analysis of GLl3 in a family with isolated polydactyly.


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This article was published in the following journal.

Name: Annals of plastic surgery
ISSN: 1536-3708


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A zinc finger transcription factor that contains five CYS2-HIS2 ZINC FINGERS and binds to the GLI consensus sequence 5'-GGGTGGTC-3'. The full-length protein functions as a transcriptional activator whereas the truncated C-terminal form functions as a transcriptional repressor of the Sonic Hedgehog (Shh) signaling pathway; a balance between these two forms is critical for limb and digit development. GLI3 also plays a critical role in the differentiation and proliferation of CHONDROCYTES.

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