Weijie Tian, Na Chen, Yang Ye, Congcong Ma, Chenglu Qin, Yuchen Niu, L Xiaoxin, Lina Zhao, Hengqiang Zhao, Ze Liang, Shuang Song, Yuan Wang, Zefu Chen, Jiachen Lin, Zihui Yan, Jiali Duan, Sen Zhao, Terry Jianguo Zhang, Guixing Qiu, Zhihong Wu, Nan Wu, Lan Zhu
Müllerian anomaly (M.A.) is a group of congenital anatomic abnormalities caused by aberrations of the development process of the Müllerian duct. M.A. can either be isolated or be involved in Mendelian syndromes, such as Dandy-Walker syndrome, Holt-Oram syndrome and Bardet-Biedl syndrome, which are often associated with both uterus and kidney malformations. In this study, we applied a genotype-first approach to analyze the whole-exome sequencing data of 492 patients with M.A. Six potential pathogenic variants were found in five genes previously related to female urogenital deformities (PKD1, SON, SALL1, BMPR1B, ITGA8), which are partially overlapping with our patients' phenotypes...
June 2022: Journal of Human Genetics