A novel homozygous mutation of bone morphogenetic protein 15 identified in a consanguineous marriage family with primary ovarian insufficiency

作者：Zhang, Wei; Wang, Jing; Wang, Xi; Li, Lin; Pan, Hong; Chen, Beili; Zhu, Ying; Li, Tengyan; Cao, Yunxia^*; Wang, Binbin^*

来源：Reproductive BioMedicine Online, 2018, 36(2): 206-209.

DOI：10.1016/j.rbmo.2017.10.104

• BMP15
• Infertility
• Primary ovarian insufficiency
• Whole-exome sequencing

The aim of this study was to explore the pathogenic gene in a primary ovarian insufficiency (POI) patient from a consanguineous marriage family. The proband and her healthy mother were selected for whole-exome sequencing. By applying a strict filtering strategy, we found a novel homozygous missense mutation, c. G1070A (p.C357Y), of BMP15 in the proband, whereas her mother was heterozygous for this mutation. The mutation was highly conserved among species and predicted to be disorder causing. This study has revealed a novel homozygous mutation of the BMP15 gene that may be associated with POI.

• 出版日期2018-2
• 单位首都医科大学; 中国医学科学院北京协和医院; 国家卫生计生委科学技术研究所; 安徽医科大学