Barratt, Kristen S., and Arkell, Ruth M. (2018) ZIC2 in Holoprosencephaly. In: UNSPECIFIED, (ed.) Zic family: Evolution, Development and Disease. Advances in Experimental Medicine and Biology, 1046 . Springer, Singapore, pp. 269-299.

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Abstract

The ZIC2 transcription factor is one of the most commonly mutated genes in Holoprosencephaly (HPE) probands. HPE is a severe congenital defect of forebrain development which occurs when the cerebral hemispheres fail to separate during the early stages of organogenesis and is typically associated with mispatterning of the embryonic midline. Recent study of genotype-phenotype correlations in HPE cases has defined distinctive features of ZIC2-associated HPE presentation and genetics, revealing that ZIC2 mutation does not produce the craniofacial abnormalities generally thought to characterise HPE but leads to a range of non-forebrain phenotypes. Furthermore, the studies confirm the extent of ZIC2 allelic heterogeneity and that pathogenic variants of ZIC2 are associated with both classic and middle interhemispheric variant (MIHV) HPE which arise from defective ventral and dorsal forebrain patterning, respectively. An allelic series of mouse mutants has helped to delineate the cellular and molecular mechanisms by which one gene leads to defects in these related but distinct embryological processes.

Item ID:	81341
Item Type:	Book Chapter (Research - B1)
ISBN:	978-981-10-7311-3
ISSN:	0065-2598
Copyright Information:	© Springer Nature Singapore Pte Ltd. 2018
Date Deposited:	10 Apr 2024 21:50
FoR Codes:	32 BIOMEDICAL AND CLINICAL SCIENCES > 3208 Medical physiology > 320801 Cell physiology @ 100%
SEO Codes:	28 EXPANDING KNOWLEDGE > 2801 Expanding knowledge > 280103 Expanding knowledge in the biomedical and clinical sciences @ 100%
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