Genetic evidence in planar cell polarity signaling pathway in human neural tube defects

Abstract

Neural tube defects (NTDs) are a group of birth anomalies having a profound physical, emotional, and financial effects on families and communities. Their etiology is complex, involving environmental and genetic factors that interact to modulate the incidence and severity of the developing phenotype. The planar cell polarity (PCP) pathway controls the process of convergent extension (CE) during gastrulation and neural tube closure and has been implicated in the pathogenesis of NTDs in animal models and human cohorts. This review summarizes the cumulative results of recent studies on PCP signaling pathway and human NTDs. These results demonstrate that PCP gene alterations contribute to the etiology of human NTDs.

Keywords

planar cell polarity / neural tube defects / rare mutations

References

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Acknowledgements

This work was supported by the National Basic Research Program of China (“973” Program) on Population and Health (No.2013CB945404), the Key Project of Tianjin Health Care Professionals (No.12KG116), the Science and Technology Foundation of the Tianjin Bureau of Public Health (No.2011KZ87).

Compliance with ethics guidelines

Chunquan Cai and Ouyan Shi declare that they have no conflict of interest. This article does not contain any studies with human or animal subjects performed by the any of the authors.

RIGHTS & PERMISSIONS

2014 Higher Education Press and Springer-Verlag Berlin Heidelberg