Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES)

León-Mateos, A.; Ginarte, Manuel; Ruíz-Ponte, Clara; Carracedo, Ángel; Toribio, Jaime

doi:10.1111/j.1365-4632.2007.03066.x

Cited by 7 publications

(1 citation statement)

References 12 publications

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“…At least 460 patients have been reported with FOXL2-related BPES [1,6,10,. The most common variants affect two intragenic regions ( Figure 1): (i) the poly-alanine region with c.663_692dup p.(Ala221_Ala231dup) reported in 12 patients (four BPES-II cases and eight with undefined type) [6,14,16,[30][31][32], c.664_693dup p.(Ala222_Ala231dup) reported in five patients (two BPES-II, two BPES-I, and one with undefined type), and c.672_701dup p.(Ala225_Ala234dup), which was reported in at least 80 patients (24 BPES-II, 2 BPES-I, and 54 with undefined type) [6,14,16,22,26,[30][31][32]54,61,63], and (ii) the poly-proline region, which encompasses amino acids at positions 284 to 292, has two duplications variants: c.843_859dup p.(Pro287Argfs*75) reported in 46 patients (3 BPES-I, 2 BPES-II, and 41 with undefined type) [6,14,16,31,32,63] and c.855_871dup p.(His291Argfs*71) in 15 patients (3 BPES-I and 12 undefined type) [6,14,16,24,38,63], and the deletion c.855_871del p.(Pro287Alafs*71) in 5 patients (3 BPES-I, 1 BPES-II, and 1 with undefined type) [6,14,34,40,63].…”

Section: Genetics Of Bpes 21 Foxl2 Genementioning

confidence: 99%

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome

Méjécase¹,

Nigam

Moosajee

et al. 2021

Genes

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Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene. It shows autosomal dominant inheritance but can also occur sporadically. Depending on the mutation, two phenotypic subtypes have been described, both involving the same craniofacial features: type I, which is associated with premature ovarian failure (POF), and type II, which has no systemic features. The genotype–phenotype correlation is not fully understood, but it has been hypothesised that type I BPES involves more severe loss of function variants spanning the whole gene. Type II BPES has been linked to frameshift mutations that result in elongation of the protein rather than complete loss of function. A mutational hotspot has been identified within the poly-alanine domain, although the exact function of this region is still unknown. However, the BPES subtype cannot be determined genetically, necessitating informed genetic counselling and careful discussion of family planning advice in view of the associated POF particularly as the patient may still be a child. Following puberty, female patients should be referred for ovarian reserve and response assessment. Oculofacial features can be managed with surgical intervention and regular monitoring to prevent amblyopia.

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Section: Genetics Of Bpes 21 Foxl2 Genementioning

confidence: 99%

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome

Méjécase¹,

Nigam

Moosajee

et al. 2021

Genes

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Multistage Correction of Blepharophimosis: Our Rationale for 18 Cases

Jie

et al. 2009

Aesth Plast Surg

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FOXL2 gene mutations and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): a novel mutation detected in a Chinese family and a statistic model for summarizing previous reported records

Xu¹,

Huo²,

Hong³

et al. 2009

Mutagenesis

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Previous studies found that the forkhead transcription factor 2 (FOXL2) gene mutations are responsible for both types of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) but have not established any systematic statistic model for the complex and even contradictory results about genotype-phenotype correlations between them. This study is aimed to find possible mutations of FOXL2 gene in a Chinese family with type II BPES by using DNA sequencing and to further clarify genotype-phenotype correlations between FOXL2 mutations and BPES by using a systematic statistical method, namely Multifactor Dimensionality Reduction (MDR). A novel mutation (g.933_965dup) which could result in an expansion of the polyalanine (polyAla) tract was detected in all patients of this family. MDR analysis for intragenic mutations of FOXL2 gene reported in previous BPES studies indicated that the mutations which led to much stronger disturbance of amino acid sequence were responsible for more type I BPES, while other kinds of mutation were responsible for more type II BPES. In conclusion, the present study found a novel FOXL2 gene mutation in a Chinese BPES family and a new general genotype-phenotype correlation tendency between FOXL2 intragenic mutations and BPES, both of which expanded the knowledge about FOXL2 gene and BPES.

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Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES)

Cited by 7 publications

References 12 publications

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome

Multistage Correction of Blepharophimosis: Our Rationale for 18 Cases

FOXL2 gene mutations and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): a novel mutation detected in a Chinese family and a statistic model for summarizing previous reported records

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