Mutational analysis of forkhead transcriptional factor 2 (<i>FOXL2</i>) in Korean patients with blepharophimosis–ptosis–epicanthus inversus syndrome

C., S.; Jang, Yangsoo; Lee, J. H.; Kim, H. K.; Kim, S. C.; Kim, S.; Baek, Suk Hwan; Jung, Won-Hee; Kim, J. R.

doi:10.1046/j.1399-0004.2003.00162.x

Cited by 8 publications

(3 citation statements)

References 18 publications

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“…To date, a total of 106 unique intragenic FOXL2 mutations (i.e. different mutations that are unique to the world-wide collection of gene variants) have been identified in 206 unrelated BPES families from different ethnic origin [Bell et al, 2001;Cha et al, 2003;Crisponi et al, 2001Crisponi et al, , 2002De Baere et al, 2001Dollfus et al, 2003;Fokstuen et al, 2003;Kosaki et al, 2002;Kumar et al, 2004;Li et al, 2005;Nallathambi et al, 2007Nallathambi et al, , 2008Or et al, 2006;Raile et al, 2005;Ramírez-Castro et al, 2002;Tang et al, 2006;Udar et al, 2003;Vincent et al, 2005;Yamada et al, 2001] (this study). An overview of these mutations is presented in Supplementary Table S1 (available online at http://www.…”

Section: Mutation Spectrum Intragenic Foxl2 Mutations In Bpesmentioning

confidence: 88%

FOXL2mutations and genomic rearrangements in BPES

2009

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The FOXL2 gene is one of 10 forkhead genes, the mutations of which lead to human developmental disorders, often with ocular manifestations. Mutations in FOXL2 are known to cause blepharophimosis syndrome (BPES), an autosomal dominant eyelid malformation associated (type I) or not (type II) with ovarian dysfunction, leading to premature ovarian failure (POF). In addition, a few mutations have been described in patients with isolated POF. Here, we review all currently described FOXL2 sequence variations and genomic rearrangements in BPES and POF. Using a combined mutation detection approach, it is possible to identify the underlying genetic defect in a major proportion (88%) of typical BPES patients. Of all genetic defects found in our BPES cohort, intragenic mutations represent 81%. They include missense changes, frameshift and nonsense mutations, in-frame deletions, and duplications, that are distributed along the single-exon gene. Genomic rearrangements comprising both deletions encompassing FOXL2 and deletions located outside its transcription unit, represent 12% and 5% of all genetic defects in our BPES cohort, respectively. One of the challenges of genetic testing in BPES is the establishment of genotype-phenotype correlations, mainly with respect to the ovarian phenotype. Genetic testing should be performed in the context of genetic counseling, however, and should be systematically complemented by a multidisciplinary clinical follow-up. Another challenge for health care professionals involved in BPES is the treatment of the eyelid phenotype and the prevention or treatment of POF.

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Section: Mutation Spectrum Intragenic Foxl2 Mutations In Bpesmentioning

confidence: 88%

FOXL2mutations and genomic rearrangements in BPES

2009

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“…Since the cloning of the gene [Crisponi et al, 2001], several reports appeared of FOXL2 mutations in BPES patients of different populations, mainly Caucasoid/ Europoid and Mongoloid [Bell et al, 2001;De Baere et al, 2001Yamada et al, 2001;Crisponi et al, 2002;Kosaki et al, 2002;Ramirez-Castro et al, 2002;Cha et al, 2003;Dollfus et al, 2003;Fokstuen et al, 2003;Udar et al, 2003]. In addition, a few FOXL2 variants have been reported in isolated POF patients and XX males [Crisponi et al, 2002;De Baere et al, 2002;Harris et al, 2002].…”

Section: The Foxl2 Mutation Database Objectivesmentioning

confidence: 99%

The humanFOXL2 mutation database

et al. 2004

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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES; MIM# 110100) is an autosomal dominant genetic condition in which an eyelid malformation is associated (type I) or not associated (type II) with premature ovarian failure (POF). In 2001, mutations in the FOXL2 gene, encoding a forkhead transcription factor, were shown to cause both BPES type I and II. Since then, a number of reports have appeared that describe intragenic FOXL2 mutations in BPES patients. In addition, a few FOXL2 variants have been reported in isolated POF patients and XX males. Previously, our group has described a large number of FOXL2 mutations, thereby demonstrating the existence of two mutational hotspots in FOXL2, intra- and interfamilial phenotypic variability in BPES families, and genotype-phenotype correlations for a number of mutations in BPES patients. Here we describe a locus-specific Human FOXL2 Mutation Database (http://medgen.ugent.be/foxl2/), created using the MuStaR software. Our database contains general information about the FOXL2 gene, as well as details about 135 intragenic mutations and variants of FOXL2, obtained from published papers, abstracts of meetings, and from unpublished data produced by our group. Not included in the current version of the database are variants residing outside the coding region of FOXL2 and molecular cytogenetic rearrangements of the FOXL2 locus. The Human FOXL2 Mutation Database was created to provide a unique publicly available online resource of information about human FOXL2 mutations/variants associated with BPES and POF. It allows remote users to submit new mutations to the database and to query the database using a web form. It will facilitate evaluation of the pathogenicity of a particular mutation, as it contains data about disease-causing mutations and polymorphisms in BPES and isolated POF patients, and a link to the known FOXL2 orthologs. Moreover, it will allow us to establish more accurate genotype-phenotype correlations, since clinical information is contained in the database.

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“…Epicanthus may resolve without treatment as facial development expands the nasal bridge and midface 4. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) occurs sporadically or as an autosomal dominant disorder 5. The congenital condition epiblepharon has been attributed to a Z-shaped kink in the orbicularis fibers and the absence of levator aponeurotic attachment to the orbicularis and skin 6.…”

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confidence: 99%

Ultrasonographic Measurement of Upper Eyelid Thickness in Korean Children with Epicanthus

Lee

Lew

Yun

2006

Korean J Ophthalmol

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PurposeUpper eyelid thickness was measured to determine whether there is a difference in the thickness of the upper eyelids in children with and without epicanthus.MethodsChildren were enrolled into the epicanthus group or non-epicanthus (control) group. The children with epicanthus were classified into four subgroups according to the Duke-Elder's classification. The thickness of the upper eyelid was measured at five points with A-scan ultrasonography.ResultsThere was no significant difference in upper eyelid thickness between the epicanthus group and control group (P>0.05) or between the subgroups of the epicanthus group (P>0.05).ConclusionsThis result suggests that the etiology of epicanthus may not be hypertrophy of soft tissue.

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Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis–ptosis–epicanthus inversus syndrome

Cited by 8 publications

References 18 publications

FOXL2mutations and genomic rearrangements in BPES

FOXL2mutations and genomic rearrangements in BPES

The humanFOXL2 mutation database

Ultrasonographic Measurement of Upper Eyelid Thickness in Korean Children with Epicanthus

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