Expanding the Spectrum of Endocrine Abnormalities Associated with SOX11-related Disorders

SOX11 variants cause Coffin-Siris Syndrome (CSS), characterized by developmental delay, hypogonadotropic hypogonadism (HH), skeletal and facial defects. To examine the contribution of SOX11 variants to the pathogenesis of Idiopathic Hypogonadotropic Hypogonadism (IHH), a disorder caused by hypothala...

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Published in:The journal of clinical endocrinology and metabolism 2024-09
Main Authors: Sun, Bang, Stamou, Maria I, Stockman, Sara L, Campbell, Mark B, Plummer, Lacey, Salnikov, Kathryn B, Kotan, Leman Damla, Topaloglu, A Kemal, Hisama, Fuki M, Davis, Erica E, Seminara, Stephanie B, Balasubramanian, Ravikumar
Format: Article
Language:English
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Summary:SOX11 variants cause Coffin-Siris Syndrome (CSS), characterized by developmental delay, hypogonadotropic hypogonadism (HH), skeletal and facial defects. To examine the contribution of SOX11 variants to the pathogenesis of Idiopathic Hypogonadotropic Hypogonadism (IHH), a disorder caused by hypothalamic GnRH deficiency. The Reproductive Endocrine Unit and the Pediatric Endocrinology Division, Massachusetts General Hospital. A cohort of 1810 unrelated IHH probands. Exome sequencing data from the entire cohort were examined for SOX11 rare single nucleotide variants (SNVs) [minor allele frequency in the gnomAD database
ISSN:0021-972X
1945-7197
1945-7197
DOI:10.1210/clinem/dgae620