Francisco Martinez: Rare EMX2 Mutations Linked to Infertility and Hormone Deficiency
Francisco Martinez, Senior Geneticist at Blueprint Genetics, shared a post on LinkedIn about a paper by Maria Stamou et al. published in Genetics in Medicine:
“De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism. Rare Disease, Genetics
They studied 142 parent-proband trios with idiopathic hypogonadotropic hypogonadism (IHH), an infertility disorder caused by Gonadotropin Releasing Hormone (GnRH) deficiency. By utilizing a de novo variant analysis and cellular assays, EMX2 was uncovered as a gene for human infertility. Rare de novo EMX2 variants led to IHH, developmental delay and hearing loss and common EMX2 variants were linked to infertility, Parkinson’s disease and hearing loss.”
Title: De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism
Authors: Maria Stamou, Miranda Tompkins, Hannah Bow, Jessica Kearney, Maleeha Akram, Harrison Brand, Xuefang Zhao, Shadi Zaheri, Neoklis A. Georgopoulos, Odelia Chorin, Yulia Khavkin, Tal Kedar, Margaret F. Lippincott, Lacey Plummer, Michael Talkowski, Yiping Shen, Doris K. Wu, Ravikumar Balasubramanian, Susan Wray, Stephanie B. Seminara
Read the full article.
Stay updated on all scientific advances in the field of fertility with Fertility News.
-
May 6, 2026, 01:35Alison Wright: BSGE 2026 Highlights Leadership Change and Future Vision
-
May 6, 2026, 01:30Short Menstrual Cycles May Signal Early Ovarian Ageing – Fertility Plus
-
May 6, 2026, 01:27Asma Khalil: Maternal Mental Health Remains a Leading Risk
-
May 5, 2026, 16:55Pregnancy Outcomes in a Recurrent Miscarriage Population After Uterine Surgeries – Fertility and Sterility
-
May 5, 2026, 16:43MAGENTA Oocyte Scores, Morphokinetics and Live Birth – Future Fertility
-
May 5, 2026, 16:34Join Us on 16 September to Explore Challenges in Managing a Successful Fertility Service – BFS
-
May 5, 2026, 16:17Mature Oocyte Retrieval Without an Exogenous Trigger During Stimulation – Fertility and Sterility
-
May 5, 2026, 16:08We Are Delighted to Announce that Fertility 2027 Registration Opens soon – Fertility Conferences
-
May 5, 2026, 15:59Lillian’s Story Highlights Urgency of Recognising Postpartum Preeclampsia – Preeclampsia Foundation