Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure
نویسندگان
چکیده
منابع مشابه
Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure.
BACKGROUND It is recognized that FMR1 premutation expansions are associated with premature ovarian failure (POF), but the role of smaller repeats at the boundary of premutation and normal is less clear. METHODS We have therefore investigated the incidence of these intermediate sized FMR1 CGG repeats (35-58 repeats) in a series of 366 women ascertained because of menopause before the age of 40...
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...
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Premature ovarian failure (POF) is a rare, heterogeneous disorder characterized by cessation of menstruation occurring before the age of 40 years. Genetic etiology is responsible for perhaps 25% of cases, but most cases are sporadic and unexplained. In this study, through whole exome sequencing in a non-consanguineous family having four affected members with POF and Sanger sequencing in 432 spo...
متن کاملIntermediate and normal sized CGG repeat on the FMR1 gene does not negatively affect donor ovarian response.
BACKGROUND Fragile X syndrome is associated with low ovarian reserve and poor ovarian response. The aim of this study was to investigate whether CGG repeats on the fragile X mental retardation 1 (FMR1) gene have predictive value for ovarian response to stimulation with gonadotrophins and for clinical outcome in our oocyte donation program. METHODS Oocyte donor candidates were selected accordi...
متن کاملInheritance in idiopathic premature ovarian failure: analysis of 71 cases.
Premature ovarian failure is defined as cessation of ovarian function under the age of 40 years and affects approximately 1% of women in the general population. The aetiology of this disorder is still unknown in most cases. Although there have been some reports of familial premature ovarian failure, very little is known about the incidence and inheritance pattern of its idiopathic form. The aim...
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ژورنال
عنوان ژورنال: Human Reproduction
سال: 2010
ISSN: 0268-1161,1460-2350
DOI: 10.1093/humrep/deq058