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
-
Nov 6, 2025, 00:03Fertility and Sterility: Special Issue Explores Human Embryo Testing and Phased Validation
-
Nov 5, 2025, 23:51William Wallace: How Your Gut Microbes Help Set Your Body’s Internal Clock
-
Nov 5, 2025, 13:34Nibhash Kumar: When Embryos Stop Growing and the Hidden Reasons Behind Early Developmental Arrest
-
Nov 5, 2025, 13:29Ahsan Saeed: DNA From Three Parents Just Stopped a Life-Threatening Disorder Before Birth!
-
Nov 5, 2025, 13:24New Weighted Classification Criteria Refine Antiphospholipid Syndrome Research – Hæmatologi DK
-
Nov 4, 2025, 15:34Optimal Endometrial Thickness Up to 12 mm Boosts Live Birth Rates in IVF – Fertility Plus
-
Nov 4, 2025, 15:20hCG and GnRH Analogue Trigger Show Similar Outcomes in IVF Cycles – Fertility Plus
-
Nov 4, 2025, 15:08Nyakaishiki Mercy: Pregnant Women Shouldn’t Get Leave From Work
-
Nov 4, 2025, 14:55Fewer Preeclampsia Cases Reported With Closed-Loop Insulin Use in Type 1 Diabetic Pregnancies – Medical Xpress