TY - JOUR AU - Chen, Zhongzhong AU - Lei, Yunping AU - Cao, Xuanye AU - Zheng, Yufang AU - Wang, Fang AU - Bao, Yihua AU - Peng, Rui AU - Finnell, Richard H. AU - Zhang, Ting AU - Wang, Hongyan PY - 2018 DA - 2018/04/04 TI - Genetic analysis of Wnt/PCP genes in neural tube defects JO - BMC Medical Genomics SP - 38 VL - 11 IS - 1 AB - Mouse homozygous mutants in Wnt/planar cell polarity (PCP) pathway genes have been shown to cause neural tube defects (NTDs) through the disruption of normal morphogenetic processes critical to neural tube closure (NTC). Knockout mice that are heterozygotes of single PCP genes likely fail to produce NTD phenotypes, yet damaging variants detected in human NTDs are almost always heterozygous, suggesting that other deleterious interacting variants are likely to be present. Nonetheless, the Wnt/PCP pathway remains a genetic hotspot. Addressing these issues is essential for understanding the genetic etiology of human NTDs. SN - 1755-8794 UR - https://doi.org/10.1186/s12920-018-0355-9 DO - 10.1186/s12920-018-0355-9 ID - Chen2018 ER -