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    • 20th Annual PKP Student Research and Fine Arts Conference: Oral Symposia III
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    The Identification of Novel Genes in Normosmic Hypogonadotropic Hypogonadism (nHH)

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    Authors
    Smith, Hannah
    Issue Date
    2019-02-13
    URI
    http://hdl.handle.net/10675.2/622094
    
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    Abstract
    Characterized by delayed or absent sexual development, idiopathic hypogonadotropic hypogonadism (IHH) is a disorder that includes the deficient production, secretion, or action of gonadotropin-releasing hormone (GnRH). Producing neurons in the brain, GnRH directly controls sexual development during puberty. Misplacement of the GnRH producing neurons leads to hypogonadotropic hypogonadism, which is divided into two categories: Kallmann syndrome (KS) and normosmic IHH (nHH). While both KS and nIHH, defined as the absence or delay of puberty, low gonadotropins and sex steroids, are similar, KS also includes the absence or impairment of smell. Whole exome sequencing (WES) is used to examine protein-coding regions of the human genome in order to detect genetic variants that could be causative. Sanger sequencing is used to confirm variants identified by WES. Using WES and Sanger sequencing, we were able to identify new genetic variants within the nHH and KS patient populations. In this study, our goal was to identify pathogenic variants in known and novel nHH/KS genes, focusing efforts on rare, loss-of-function variants in: WDR11, GLI2, CTNNA1, ANKHD1, SEMA6A, PRRC2C, EHBP1, and RIF1 genes. This study broadens our understanding of pathogenic variants in known and novel IHH genes that may contribute to the disease phenotype.
    Affiliation
    College of Education
    Department of Obstetrics & Gynecology
    Description
    Presentation given at the 20th Annual Phi Kappa Phi Student Research and Fine Arts Conference
    Collections
    Department of Education: Student Research and Presentation
    Department of Kinesiology: Student Research and Presentations
    20th Annual PKP Student Research and Fine Arts Conference: Oral Symposia III

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