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SHH and Holoprosencephaly 

SHH and Holoprosencephaly
Chapter:
SHH and Holoprosencephaly
Author(s):

Khosrow S. Houschyar

, Andrew A. Smith

, and Jill A. Helms

DOI:
10.1093/med/9780199934522.003.0029
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date: 25 February 2021

Holoprosencephaly (HPE) is the most common structural anomaly of the brain characterized by incomplete separation of the forebrain. Enormous strides have been made in recent years towards identifying genetic mutations that lead to HPE. The most common molecular pathway implicated in the pathogenesis of HPE is mediated by Sonic Hedgehog (SHH), and components of Hedgehog signaling including the receptor Patched, the transcription factors Gli2, Zic2, and Six3, the homeodomain protein 5’-TG-3’-interacting factor (TGIF), and the SHH regulator, growth arrest-specific 1 (Gas1). Despite this progress, what remains enigmatic is how a particular genetic mutation causes the range of phenotypes that are a hallmark of this malformation sequence. Specifically, there remain a number of “knowledge gaps” in establishing a framework for genotype-phenotype correlations. Consequently, there is still much to be learned before a comprehensive understanding of HPE is reached, and preventative strategies can be implemented.

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