NR5A1(SF-1) Mutations Are Not a Major Cause of Primary Ovarian Insufficiency
نویسندگان
چکیده
منابع مشابه
POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women
Context Primary ovarian insufficiency (POI) results from a premature loss of oocytes, causing infertility and early menopause. The etiology of POI remains unknown in a majority of cases. Objective To identify candidate genes in families affected by POI. Design This was a family-based genetic study. Setting The study was performed at two academic institutions. Patients and Other Particip...
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PURPOSE To assess the frequency of mutations in the Myocilin (MYOC) gene in Iranian patients affected with primary congenital glaucoma (PCG). METHODS The individuals evaluated herein are among a larger cohort of 100 patients who had previously been screened for CYP1B1 mutations. Eighty subjects carried mutations in CYP1B1, but the remaining 20 patients who did not, underwent screening for MYO...
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Primary ovarian insufficiency (POI) is a genetically heterogeneous disorder that occurs in familial or sporadic fashion. Through whole exome sequencing in a Chinese pedigree with POI, we identified a novel homozygous missense mutation (ENST00000375755: c.1459G > T, p.D487Y) in the MSH5 gene in two sisters with POI. The homologous mutation in mice resulted in atrophic ovaries without oocytes, an...
متن کاملMutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure.
Premature ovarian failure (POF) is a heterogeneous disorder whose aetiology is still unknown. Recently, the autosomal FOXL2 gene, highly expressed in the adult ovary, has been correlated with the disorder. FOXL2 mutations, causing a truncation of the FOXL2 protein in the forkhead domain or in the poly-Ala tract lead to blepharophimosis-ptosis-epicanthus-inversus syndrome associated with POF (BP...
متن کاملPrimary Ovarian Insufficiency
Primary ovarian insufficiency or premature menopause is one of the stressful problems in women younger than 40, which may cause numerous early or late psychological and physical complications. Failure of germ cell development is associated with complete ovarian insufficiency, while their decreased number is more likely associated with partial ovarian insufficiency, which leads to secondary amen...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2013
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2012-4111