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GLI3 and the Pallister–Hall and Greig Cephalopolysyndactyly Syndromes 

GLI3 and the Pallister–Hall and Greig Cephalopolysyndactyly Syndromes
Chapter:
GLI3 and the Pallister–Hall and Greig Cephalopolysyndactyly Syndromes
Author(s):

Leslie G. Biesecker

DOI:
10.1093/med/9780199934522.003.0032
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date: 07 March 2021

Pallister–Hall syndrome (PHS) and Greig cephalopolysyndactyly syndrome (GCPS) are pleiotropic syndromes caused by GLI3 mutations and inherited in an autosomal dominant pattern. The major anomalies in PHS include hypothalamic hamartoma, polydactyly, and airway anomalies. The major anomalies of GCPS include macrocephaly with hypertelorism and polydactyly. Both have variable expressivity but are clinically distinct. GLI3 encodes a zinc finger transcription factor in the sonic hedgehog (SHH) pathway. The spectrum of GLI3 mutations in patients with GCPS includes many types of mutations, whereas PHS mutations typically comprises only frameshift mutations that preserve the GLI3 DNA binding domain. These mutations correlate with GLI3 function.

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