Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients

Udar, Nitin; Yellore, Vivek S.; Chalukya, Meenal; Yelchits, Svetlana; Silva‐Garcia, Rosamaria; Small, Kent W.

doi:10.1002/humu.10251

Cited by 38 publications

(24 citation statements)

References 24 publications

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“…In humans, F0XL2 is linked to BPES (Blepharophimosis Ptosis Epicanthus inversus Syndrome), which in some cases is associated with premature ovarian failure (Harris et al, 2002;Kosaki et al, 2002;De Baere et al, 2003;Fokstuen et al, 2003;Loffler et al, 2003;Udar et al, 2003). However, unlike PIS in goats, female to male sex-reversal is never reported in BPES cases.…”

Section: Ovary-determining Gene Versus the Z Theorymentioning

confidence: 99%

The pathway to femaleness: current knowledge on embryonic development of the ovary

Yao

2005

Molecular and Cellular Endocrinology

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Increasing evidence indicates that organogenesis of the ovary is not a passive process arising by default in the absence of the testis pathway. A coordinated interaction is actually in force between somatic cells and female germ cells in embryonic ovaries, thus creating a unique microenvironment that facilitates the formation of follicles. Identification of the functional roles of several novel regulatory elements such as Figα, Foxl2, follistatin, and Wnt4 reveals the complexity of early ovarian organization. Challenges await us to establish the molecular connections of these molecules as well as to discover new candidates in the pathway of early ovarian development.

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Section: Ovary-determining Gene Versus the Z Theorymentioning

confidence: 99%

The pathway to femaleness: current knowledge on embryonic development of the ovary

Yao

2005

Molecular and Cellular Endocrinology

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“…1A)). A nonsense mutation within the forkhead may also lead to the production of an inactive protein [16,24,25] (Fig. 1B).…”

Section: Foxl2 Mutations In Bpesmentioning

confidence: 99%

“…1B). However, truncated FOXL2 proteins containing a complete forkhead domain, but lacking the polyAla, such as p.F167X, p.G196X or p.S203X (16,25) might compete with the normal protein for DNA binding and lead to type I BPES (16,17) (Fig. 1C).…”

Section: Foxl2 Mutations In Bpesmentioning

confidence: 99%

The transcription factor FOXL2 in ovarian function and dysfunction.

Baere

Fellous²,

Veitia³

2010

Folia Histochem Cytobiol.

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Abstract:The Blepharophimosis Ptosis Epicanthus-inversus Syndrome is a genetic disease characterized by complex eyelid malformations often associated with premature ovarian failure (POF). BPES is basically an autosomal dominant disease, due to mutations in the FOXL2 gene, which encodes a forkhead transcription factor. More than one hundred mutations of FOXL2 have been described to date. In agreement with the BPES phenotype, FOXL2 is expressed (though not exclusively) in the developing eyelids and in fetal and adult ovaries. Two mouse knock-out models have been produced. They recapitulate the BPES phenotype and have provided insights into the pathology. Loss-of-function mutations in FOXL2 are predicted to lead to BPES and POF, while hypomorphic mutations might lead to BPES without ovarian dysfunction. However, exceptions to the genotype-phenotype correlation have been described. To better understand the pathogenic effect of these mutations it is crucial to study the normal regulation of FOXL2 and its targets. We briefly address these aspects in this review and hope that basic research around FOXL2 will eventually lead to uncover new therapeutic avenues.

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“…3 Blepharophimosis syndrome (BPES) has a great impact on a patient's functional status and may cause poor visual development. 7 Although previous studies describe the demography and aetiology of children with blepharophimosis syndrome, [1][2][3][4][5][6][8][9][10][11] there is a little information in the ophthalmic literature regarding the severity of the syndrome, surgical outcomes, and complications. [12][13][14][15][16][17] Our study focuses on a blepharophimosis syndrome cohort undergoing one-stage surgical correction in a tertiary referral oculoplastic centre.…”

Section: Introductionmentioning

confidence: 99%

One-stage correction for blepharophimosis syndrome

Wang

et al. 2006

Eye

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Purpose To classify the severity of blepharophimosis, describe associated features and their effects on the incidence of amblyopia and to recommend guidelines for surgical treatment and management of surgical complications. Methods The case records of 23 patients with blepharophimosis syndrome were examined retrospectively. Patients' photographs and measurements were reviewed to analyse the severity of blepharophimosis, surgical techniques undertaken, surgical outcomes, and complications. Statistical analyses were performed using paired-sample t-tests to evaluate the surgical outcome and Spearman correlation to examine the influence of blepharophimosis on the interpalpebral fissure height (PFH). Results Eighteen out of 23 (78%) patients underwent one-stage surgery before the age of 5 years. About 31% of these patients had amblyopia. Only two patients had a blepharophimosis ratio greater than 1.5 as poor result. Two out of 18 (11%) patients with PFHs more than 2 mm needed a repeat operation, but all five (100%) patients with s less than 2 mm (very severe ptosis) needed repeat operations. Conclusions The one-stage corrective procedure provided acceptable results both in function and cosmesis. However, patients with very severe ptosis required multiple stages of reconstruction for ptosis correction at an earlier age, after which correction of telecanthus and small horizontal palpebral fissure length followed at an older age.

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Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients

Cited by 38 publications

References 24 publications

The pathway to femaleness: current knowledge on embryonic development of the ovary

The pathway to femaleness: current knowledge on embryonic development of the ovary

The transcription factor FOXL2 in ovarian function and dysfunction.

One-stage correction for blepharophimosis syndrome

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