New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism

Medientyp: E-Artikel
Titel: New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism
Beteiligte: Gach, Agnieszka; Pinkier, Iwona; Wysocka, Urszula; Sałacińska, Kinga; Salachna, Dominik; Szarras-Czapnik, Maria; Pietrzyk, Aleksandra; Sakowicz, Agata; Nykel, Anna; Rutkowska, Lena; Rybak-Krzyszkowska, Magda; Socha, Magda; Jamsheer, Aleksander; Jakubowski, Lucjusz
Erschienen: Termedia Sp. z.o.o., 2020
Erschienen in: Archives of Medical Science
Sprache: Nicht zu entscheiden
DOI: 10.5114/aoms.2020.98909
ISSN: 1734-1922; 1896-9151
Schlagwörter: General Medicine
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Beschreibung: <jats:sec><jats:title>Introduction</jats:title><jats:p>Congenital hypogonadotropic hypogonadism results from a dysfunction of the hypothalamic-pituitary-gonadal axis, which is essential for the development and function of the reproductive system. It may be associated with anosmia, referred to as Kallmann syndrome, or a normal sense of smell. Numerous studies have proven that hypogonadotropic hypogonadism is not simply a monogenic Mendelian disease, but that more than one gene may be involved in its pathogenesis in a single patient. The oligogenic complex architecture underlying the disease is still largely unknown.</jats:p></jats:sec><jats:sec><jats:title>Material and methods</jats:title><jats:p>Targeted next-generation sequencing (NGS) was used to screen for DNA variants in a cohort of 47 patients with congenital hypogonadotropic hypogonadism. The NGS panel consists of over 50 well-known and candidate genes, associated with hypogonadotropic state.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Here we report the identification of new oligogenic variants in SPRY4/SEMA3A, SRA1/SEMA7A, CHD7/SEMA7A, CCDC141/POLR3B/POLR3B, and PROKR2/SPRY4/NSMF. These genes are known to contribute to the phenotype of hypogonadotropic hypogonadism, yet our results point to potential new “partners” underlying digenic and trigenic patterns.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>The finding supports the importance of oligogenic inheritance and demonstrates the complexity of genetic architecture in hypogonadotropic hypogonadism. It also underlines the necessity for developing fine-tuned guidelines to provide a tool for adequate and precise sequence variant classification in non-Mendelian conditions.</jats:p></jats:sec>
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