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
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