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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Medical and Biotech [MESH] Definitions

A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.

A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.

A mutation named with the blend of insertion and deletion. It refers to a length difference between two ALLELES where it is unknowable if the difference was originally caused by a SEQUENCE INSERTION or by a SEQUENCE DELETION. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a FRAMESHIFT MUTATION.

A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.

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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