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.
-
Nov 2, 2026, 17:08Elena Milner: The 2nd Class of the School of Embryology Is Already in Full Swing
-
Nov 2, 2026, 17:05November Is National Diabetes Month – PCOS Awareness Association
-
Nov 2, 2026, 17:04Thanos Papathanasiou: Are We Preparing Patients for the IVF Cycle, or for the IVF Journey?
-
Nov 2, 2026, 17:02Anna Morales: Why Is It So Hard to Build in Women’s Health?
-
Nov 2, 2026, 16:59Rickard Ericsson: Honored to Take on the Role of Interim CEO of the Vitrolife Group
-
Nov 2, 2026, 16:56Mohammed Nasur: 1 Small Simulation, A Bigger Purpose
-
Nov 2, 2026, 16:54Carlos Guerrero: Presenting Our Latest Research on AI and Embryo Assessment at ASRM 2026
-
Nov 2, 2026, 16:52Sarah Lewen: My 1st ASRM Is Officially Complete
-
Nov 2, 2026, 16:49Jemma Garratt: Taking on the Role of Kind IVF and Data Science Manager at London Women’s Clinic