ArticlePloS one2012
Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Oligogenic basis of premature ovarian insufficiency: an observational study.Journal of ovarian research · 2024Observational
- Shared Genetics Between Age at Menopause, Early Menopause, POI and Other Traits.Frontiers in genetics · 2021Review
- Primary ovarian insufficiency, meiosis and DNA repair.Biomedical journal · 2020Review
- Ovarian tissue cryopreservation: Low usage rates and high live-birth rate after transplantation.Acta obstetricia et gynecologica Scandinavica · 2020Article
- Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure.Clinics (Sao Paulo, Brazil) · 2016Article
- Ovarian Physiology and GWAS: Biobanks, Biology, and Beyond.Trends in endocrinology and metabolism: TEM · 2016Review
- Genetics of primary ovarian insufficiency: a review.Journal of assisted reproduction and genetics · 2014Review
- Boy or girl's mendelian genetics with "precious" families.Journal of molecular neuroscience : MN · 2014Article
- Mutant cohesin in premature ovarian failure.The New England journal of medicine · 2014Article
- A Consanguinity Related Autosomal Translocation which Leads to Premature Ovarian Failure.Journal of clinical and diagnostic research : JCDR · 2013Article
- Genetics of primary ovarian insufficiency: new developments and opportunities.Human reproduction updateReview
Corrections and comments
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Authors and funding
14 authors.
Funding
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Abstract
backgroundThe human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10-15% are familial, suggesting a genetic origin of the disease. Although several causal mutations have been identified, the etiology of POF is still unknown for about 90% of the patients. METHODOLOGY/PRINCIPAL
findingsWe report a genome-wide linkage and homozygosity analysis in one large consanguineous Middle-Eastern POF-affected family presenting an autosomal recessive pattern of inheritance. We identified two regions with a LOD(max) of 3.26 on chromosome 7p21.1-15.3 and 7q21.3-22.2, which are supported as candidate regions by homozygosity mapping. Sequencing of the coding exons and known regulatory sequences of three candidate genes (DLX5, DLX6 and DSS1) included within the largest region did not reveal any causal mutations. CONCLUSIONS/SIGNIFICANCE: We detect two novel POF-associated loci on human chromosome 7, opening the way to the identification of new genes involved in the control of ovarian development and function.
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