Mutations in MSH5 in primary ovarian insufficiency
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چکیده
منابع مشابه
Mutations in MSH5 in primary ovarian insufficiency
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...
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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...
متن کاملMutations in NR5A1 associated with ovarian insufficiency.
BACKGROUND The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies ...
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...
متن کاملPrimary Ovarian Insufficiency
From the Integrative Reproductive Medi cine Unit, Intramural Research Program on Reproductive and Adult Endocrinology, National Institute of Child Health and Hu man Development, National Institutes of Health, Bethesda, MD. Address reprint requests to Dr. Nelson at the Integrative Reproductive Medicine Unit, NICHD– Intramural Research Program on Repro ductive and Adult Endocrinology, CRC, Rm....
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2017
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddx044