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.
-
Oct 11, 2025, 06:44The Global IVF Market Is Set to Reach $65B by 2032 – Meddilink
-
Dec 21, 2025, 02:15Siddhartha Yadav: New ASCO Guideline for Managing Cancer During Pregnancy
-
Dec 21, 2025, 01:56New Patient Resource on Thyroid Issues in Pregnancy – RCOG
-
Dec 21, 2025, 01:49CDC Releases 2024 Pregnancy Mortality Data – Preeclampsia Foundation
-
Dec 21, 2025, 01:30Caitlin Wyrwoll: New Insights on Maternal Health and Extreme Heat
-
Dec 20, 2025, 10:57Clare Pin-Chia Huang: New Research Links Maternal Diabetes to Pregnancy Risks
-
Dec 20, 2025, 10:53Evaluating Maternal and Neonatal Health in Rheumatoid Arthritis Pregnancies – Hiroki Ozawa
-
Dec 20, 2025, 10:36Enhancing Care for Women Facing Recurrent Pregnancy Loss – SOGC
-
Dec 20, 2025, 05:00Ilana Ferhadian: Celebrating Book Launch
-
Dec 19, 2025, 16:21Launch of National Fertility Plan Marks Public Health Milestone – Collectif BAMP Association