The forkhead box L2 ( FOXL2 ) gene (OMIM#605597) was mapped to the BPES critical region on chromosome 3q23, and mutations in this gene were subsequently associated with both types of BPES. (ijbs.com)
FOXL2 (OMIM 605597) is a transcription factor belonging to the forkhead box (FOX) superfamily, characterized by the forkhead box/winged-helix DNA-binding domain. (wikipedia.org)
Forkhead box3
Indel mutations in the forkhead box L2 (FOXL2) gene cause two types of BPES that are distinguished by the presence (type I) or absence (type II) of premature ovarian failure (POF). (ijbs.com)
Forkhead box protein L2 is a protein that in humans is encoded by the FOXL2 gene. (wikipedia.org)
Several SNPs (Single Variant Polymorphisms) in the genomic region 3q23 overlapping the forkhead box L2 (FOXL2) were found associated with eyebrow thickness. (wikipedia.org)
BPES3
The purpose of this study was to identify a possible deletion in FOXL2 in Chinese families with BPES and to clarify its relationship with POF. (ijbs.com)
A novel FOXL2 indel mutation was identified in Chinese families with BPES. (ijbs.com)
However, a correlation between the transcriptional activity of FOXL2 variants and the type of BPES was found. (wikipedia.org)
Ovarian5
FOXL2 plays an important role in ovarian development and function. (wikipedia.org)
Mutations in this gene are a cause of blepharophimosis, ptosis, epicanthus inversus syndrome and/or premature ovarian failure (POF) 3. (wikipedia.org)
A missense mutation in the FOXL2 gene, C134W, is typically found in adult granulosa cell tumors but not in other ovarian cancers nor in juvenile granulosa cell tumors. (wikipedia.org)
a mutated FOXL2 could not interact with SF-1 normally and thus could not regulate ovarian AMH as normal. (wikipedia.org)
Although this level of plasticity is still found in the fully differentiated gonads, errors like mutations or epigenetic modifications impact ovarian development and, later, folliculogenesis, resulting in infertility. (lidsen.com)
Deletion1
A novel FOXL2 heterozygous indel mutation, c.19_95del, a 77-bp deletion that disrupts FOXL2 protein structure, was identified in all affected members of the family. (ijbs.com)
Gene5
The whole coding sequence and nearby 5' untranslated region (UTR) and 3'UTR of the FOXL2 gene were amplified using polymerase chain reaction (PCR) with three sets of overlapping primers, followed by sequencing analyses. (ijbs.com)
Based on the patients' clinical manifestations and analysis of the identified indel mutation, we found that the mutation disturbed interactions between FOXL2 and the StAR gene. (ijbs.com)
In addition, this indel mutation significantly increased StAR mRNA expression by disrupting the ability of the FOXL2 protein to bind to the StAR promoter and act as a repressor of this gene. (ijbs.com)
Furthermore, this novel mutation resulted in the dysfunction of FOXL2 as a transcription factor, blocking its ability to bind to the promoter region of the StAR gene, resulting in POF in the affected patient. (ijbs.com)
The byg mutation is an A to T transversion causing a premature stop codon in the gene encoding MAP3K4 (also known as MEKK4), a mitogen-activated protein kinase kinase kinase. (plos.org)
Autosomal1
Our data indicate, for the first time, a requirement for MAPK signaling in the developing XY gonad in order to facilitate normal expression of SRY and the downstream testis-determining genes and also suggest that reduced dosage of MAP3K4 may be the cause of a previously described autosomal sex-reversing mutation in the mouse. (plos.org)
Protein4
Our results expand the spectrum of known FOXL2 mutations and provide additional insight into the structure-function relationships of the FOXL2 protein. (ijbs.com)
In addition, the FOXL2 protein will prevent the formation of testes by suppressing expression of SOX9. (wikipedia.org)
By a yeast-two-hybrid screening, 10 novel protein partners of FOXL2 were discovered. (wikipedia.org)
The p.Asn173His mutation affects a residue in the forkhead domain that is 100% conserved among vertebrate orthologs and is predicted to participate in protein-protein interactions. (molvis.org)
Mice1
In mice, FOXL2 is also expressed in pituitary cells where it is required for FSH expression. (wikipedia.org)
Transcription factor1
Human FOXL2 is an important member of the forkhead transcription factor family. (ijbs.com)
Genetic1
Using a forward genetic screen, we identified the recessive boygirl ( byg ) mutation. (plos.org)
Found1
FOXL2 knockout in mature mouse ovaries appears to cause the ovary's somatic cells to transdifferentiate to the equivalent cell types ordinarily found in the testes. (wikipedia.org)
Forkhead9
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 ( FOXL2 ) gene. (nih.gov)
5. Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (nih.gov)
11. Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome. (nih.gov)
13. Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II. (nih.gov)
14. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. (nih.gov)
Forkhead box protein L2 is a protein that in humans is encoded by the FOXL2 gene. (wikipedia.org)
FOXL2 (OMIM 605597) is a transcription factor belonging to the forkhead box (FOX) superfamily, characterized by the forkhead box/winged-helix DNA-binding domain. (wikipedia.org)
Several SNPs (Single Variant Polymorphisms) in the genomic region 3q23 overlapping the forkhead box L2 (FOXL2) were found associated with eyebrow thickness. (wikipedia.org)
Moreover, by studying the effects of natural and artificial mutations in the forkhead domain of FOXL2, a clear correlation between the orientation of amino-acid side chains in the DNA-binding domain and transcriptional activity is founded, providing the first (in silico) predictive tool of the effects of FOXL2 missense mutations. (wikipedia.org)
Variants5
However, a correlation between the transcriptional activity of FOXL2 variants and the type of BPES was found. (wikipedia.org)
Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus. (cdc.gov)
Across functionally tested missense variants (n = 156), the spatial proximity from the ligand was associated with loss-of-function in the GAT1 transporter activity. (bvsalud.org)
Here, we describe 13 individuals with global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphology with heterozygous HNRNPC germline variants. (bvsalud.org)
Gene mutation1
9. A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome. (nih.gov)
Pathogenic1
The diagnosis of BPES is established in a proband with suggestive findings and a heterozygous pathogenic variant in FOXL2 or its regulatory domain identified by molecular genetic testing . (nih.gov)
Epicanthus Inversus Syndrome5
7. A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome. (nih.gov)
10. Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. (nih.gov)
16. Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (nih.gov)
Mutations in this gene are a cause of blepharophimosis, ptosis, epicanthus inversus syndrome and/or premature ovarian failure (POF) 3. (wikipedia.org)
Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With FOXL2 Mutations. (cdc.gov)
Ptosis1
2. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. (nih.gov)
Syndrome3
Polled Intersex Syndrome in goats is caused by a biallelic loss-of-function in FOXL2 transcription and leads to in utero female-to-male sex-reversal. (wikipedia.org)
Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome typ. (biomedcentral.com)
These are: 3MC1 syndrome ( 257920 ) resulting from homozygous mutations in the MASP1 gene (3q27.3), 3MC2 syndrome ( 265050 ) caused by mutations in the COLEC11 gene (2p25.3) and 3MC3 ( 248340 ) with mutations in the COLEC10 gene (8q24.12). (arizona.edu)