Article
Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.
JCI insight - 8 Feb 2023
Cassin Jessica, Stamou Maria I, Keefe Kimberly W, Sung Kaitlin E, Bojo Celine C, Tonsfeldt Karen J, Rojas Rebecca A, Ferreira Lopes Vanessa, Plummer Lacey, Salnikov Kathryn B, Keefe David L, Ozata Metin, Genel Myron, Georgopoulos Neoklis A, Hall Janet E, Crowley William F, Seminara Stephanie B, Mellon Pamela L, Balasubramanian Ravikumar
Abstract excerpt
Pathogenic SRY-box transcription factor 2 (SOX2) variants typically cause severe ocular defects within a SOX2 disorder spectrum that includes hypogonadotropic hypogonadism. We examined exome-sequencing data from a large, well-phenotyped cohort of patients with idiopathic hypogonadotropic hypogonadism (IHH) for pathogenic SOX2 variants to investigate the underlying pathogenic SOX2 spectrum and its associated...
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