Article ID Journal Published Year Pages File Type
8783935 Reproductive BioMedicine Online 2018 4 Pages PDF
Abstract
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.
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