ArticleAmerican journal of human genetics2003
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers.
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Who cites it
76 citing papers in PubMed, 241 citations in OpenAlex.
- Modification of the Transcription Factor FOXL2 at Serines 101 and 107 Disables DNA Binding, Leads to Nucleolar Relocalization, and Rewires Granulosa-Cell Programs.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Variant Curation of the Largest Compendium ofHuman mutation · 2026Article
- A rare case of Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) associated with keratoconus: a multidisciplinary approach to diagnosis and management.BMC ophthalmology · 2025Article
- Potential MiRNA therapies for premature ovarian failure: new challenges and opportunities.Stem cell research & therapy · 2025Review
- Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation.Human genomics · 2025Article
- The association of the FOXE1 polyalanine tract length with the occurrence of premature ovarian insufficiency in the Greek population: A pilot, case-control study.Turkish journal of obstetrics and gynecology · 2025Article
- Functional analysis of 6 variations inSAGE open medicine · 2025Article
- Thirteen Ovary-Enriched Genes Are Individually Not Essential for Female Fertility in Mice.Cells · 2024Article
- NovelFrontiers in genetics · 2024Article
- Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.Frontiers in medicine · 2023Review
- Identification and functional analyses of a novelInternational journal of ophthalmology · 2023Article
- Review
- Estimates of global research productivity in primary ovarian insufficiency from 2000 to 2021: Bibliometric analysis.Frontiers in endocrinology · 2022Article
- Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome.Molecular vision · 2022Article
- Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients WithFrontiers in endocrinology · 2022Article
- Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences.Genome research · 2022Review
- Confrontment and solution to gonadotropin resistance and low oocyte retrieval in in vitro fertilization for type I BPES: a case series with review of literature.Journal of ovarian research · 2021Review
- Planned oocyte cryopreservation in women with blepharophimosis-ptosis-epicanthus inversus syndrome: a case series.F&S reports · 2021Article
- The Genetic and Clinical Features ofGenes · 2021Review
- A Novel Missense Variant ofFrontiers in genetics · 2021Article
16 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors at 10 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in FOXL2, a putative forkhead transcription factor gene. We previously reported 22 FOXL2 mutations and suggested a preliminary genotype-phenotype correlation. Here, we describe 21 new FOXL2 mutations (16 novel ones) through sequencing of open reading frame, 5' untranslated region, putative core promoter, and fluorescence in situ hybridization analysis. Our study shows the existence of two mutational hotspots: 30% of FOXL2 mutations lead to polyalanine (poly-Ala) expansions, and 13% are a novel out-of-frame duplication. In addition, this is the first study to demonstrate intra- and interfamilial phenotypic variability (both BPES types caused by the same mutation). Furthermore, the present study allows a revision of the current genotype-phenotype correlation, since we found exceptions to it. We assume that for predicted proteins with a truncation before the poly-Ala tract, the risk for development of POF is high. For mutations leading to a truncated or extended protein containing an intact forkhead and poly-Ala tract, no predictions are possible, since some of these mutations lead to both types of BPES, even within the same family. Poly-Ala expansions may lead to BPES type II. For missense mutations, no correlations can be made yet. Microdeletions are associated with mental retardation. We conclude that molecular testing may be carefully used as a predictor for POF risk in a limited number of mutations.
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