A novel splicing mutation of ARHGAP29 is associated with nonsyndromic cleft lip with or without cleft palate.
Qiuxia YuQiong DengFang FuRu LiWenwen ZhangJunhui WanXin YangDan WangFucheng LiShaoqing WuJian LiDongzhi LiCan LiaoPublished in: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians (2020)
In this study, we successfully diagnosed the genetic cause of NSCL/P in a family and first report that the c.1920 + 1G > A mutation in ARHGAP29 is associated with NSCL/P. Our study enriches the genetic landscape of NSCL/P, extends the mutation spectrum of ARHGAP29, and provides a new direction for the diagnosis of NSCL/P in patients and its prenatal diagnosis in fetuses.