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

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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.

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  1. Department of Surgery, Tianjin Children’s Hospital, Tianjin, 300074, China

    Chunquan Cai

  2. School of Basic Medical Sciences, Tianjin Medical University, Tianjin, 300070, China

    Ouyan Shi

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Cai, C., Shi, O. Genetic evidence in planar cell polarity signaling pathway in human neural tube defects. Front. Med. 8, 68–78 (2014). https://doi.org/10.1007/s11684-014-0308-4

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