ArticleBMC medical genetics2007
Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report.
Article in BMC medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 18 citations in OpenAlex.
- Review
- Epigenetic Aberration of FMR1 Gene in Infertile Women with Diminished Ovarian Reserve.Cell journal · 2018Article
- Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.Molecular cytogenetics · 2015Article
- Development and validation of a multiplex-PCR assay for X-linked intellectual disability.BMC medical genetics · 2013Article
- Unstable mutations in the FMR1 gene and the phenotypes.Advances in experimental medicine and biology · 2012Review
- X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation.Molecular cytogenetics · 2010Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGGn< 200) has been widely investigated. Current findings suggest that the risk estimation for POF can be calculated in the offspring of women with pre-mutated FMR1 alleles. CASE PRESENTATION: We describe the coexistence in a large Italian kindred of Fragile X syndrome and familial POF in females with ovarian dysfunctions who carried normal or expanded FMR1 alleles. Genetic analysis of the FMR1 gene in over three generations of females revealed that six carried pre-mutated alleles (61-200), of which two were also affected by POF. However a young woman, who presented a severe ovarian failure with early onset, carried normal FMR1 alleles (<40). The coexistence within the same family of two dysfunctional ovarian conditions, one FMR1-related and one not FMR1-related, suggests that the complexity of familial POF conditions is larger than expected.
conclusionOur case study represents a helpful observation and will provide familial cases with heterogeneous etiology that could be further studied when candidate genes in addition to the FMR1 premutation will be available.
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