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Reprod Biomed Online. 2018 Feb;36(2):206-209. doi: 10.1016/j.rbmo.2017.10.104. Epub 2017 Oct 26.

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

Author information

1
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; Graduate School of Peking Union Medical College, Beijing 100730, China; Center for Genetics, National Research Institute for Family Planning, Beijing 100081, China.
2
Department of Medical Genetics, School of Basic Medical Sciences, Capital Medical University, Beijing 100069, China.
3
Center for Genetics, National Research Institute for Family Planning, Beijing 100081, China.
4
Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.
5
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China.
6
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China. Electronic address: caoyunxia6@126.com.
7
Graduate School of Peking Union Medical College, Beijing 100730, China; Center for Genetics, National Research Institute for Family Planning, Beijing 100081, China. Electronic address: wbbahu@163.com.

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.

KEYWORDS:

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

PMID:
29169851
DOI:
10.1016/j.rbmo.2017.10.104
[Indexed for MEDLINE]

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