Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms

Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms

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 hypogonadis...

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Bibliographic Details
Main Authors: Jessica Cassin, Maria I. Stamou, Kimberly W. Keefe, Kaitlin E. Sung, Celine C. Bojo, Karen J. Tonsfeldt, Rebecca A. Rojas, Vanessa Ferreira Lopes, Lacey Plummer, Kathryn B. Salnikov, David L. Keefe Jr., Metin Ozata, Myron Genel, Neoklis A. Georgopoulos, Janet E. Hall, William F. Crowley Jr., Stephanie B. Seminara, Pamela L. Mellon, Ravikumar Balasubramanian
Format: Article
Language:English
Published: American Society for Clinical investigation 2023-02-01
Series:JCI Insight
Subjects:
Endocrinology
Neuroscience
Online Access:https://doi.org/10.1172/jci.insight.164324

Internet

https://doi.org/10.1172/jci.insight.164324

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