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BPES, TYPE II

MedGen UID:
349461
•Concept ID:
C1862261
•
Disease or Syndrome
OMIM®: 110100

Professional guidelines

PubMed

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L
Am J Hum Genet 2003 Feb;72(2):478-87. Epub 2003 Jan 14 doi: 10.1086/346118. PMID: 12529855Free PMC Article
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L
Hum Mol Genet 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. PMID: 11468277

Recent clinical studies

Etiology

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L
Am J Hum Genet 2003 Feb;72(2):478-87. Epub 2003 Jan 14 doi: 10.1086/346118. PMID: 12529855Free PMC Article

Diagnosis

Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly.
Shen Q, Zhao X, Ji Y, Chai P
J Craniofac Surg 2024 Jan-Feb 01;35(1):e52-e56. Epub 2023 Nov 8 doi: 10.1097/SCS.0000000000009801. PMID: 37938073Free PMC Article
A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome.
Corrêa FJ, Tavares AB, Pereira RW, Abrão MS
Fertil Steril 2010 Feb;93(3):1006.e3-6. Epub 2009 Dec 6 doi: 10.1016/j.fertnstert.2009.08.034. PMID: 19969293
Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Tang S, Wang X, Lin L, Sun Y, Wang Y, Yu H
Mutagenesis 2006 Jan;21(1):35-9. Epub 2006 Jan 4 doi: 10.1093/mutage/gei067. PMID: 16394030
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L
Hum Mol Genet 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. PMID: 11468277

Prognosis

FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.
Fokstuen S, Antonarakis SE, Blouin JL
Am J Med Genet A 2003 Mar 1;117A(2):143-6. doi: 10.1002/ajmg.a.10024. PMID: 12567411
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L
Am J Hum Genet 2003 Feb;72(2):478-87. Epub 2003 Jan 14 doi: 10.1086/346118. PMID: 12529855Free PMC Article
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L
Hum Mol Genet 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. PMID: 11468277

Clinical prediction guides

FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES).
Fan JY, Wang YF, Han B, Ji YR, Song HD, Fan XQ
Transl Res 2011 Jan;157(1):48-52. Epub 2010 Sep 8 doi: 10.1016/j.trsl.2010.08.005. PMID: 21146150
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.
Fokstuen S, Antonarakis SE, Blouin JL
Am J Med Genet A 2003 Mar 1;117A(2):143-6. doi: 10.1002/ajmg.a.10024. PMID: 12567411
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L
Am J Hum Genet 2003 Feb;72(2):478-87. Epub 2003 Jan 14 doi: 10.1086/346118. PMID: 12529855Free PMC Article
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L
Hum Mol Genet 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. PMID: 11468277
Refined genetic and physical mapping of BPES type II.
Messiaen L, Leroy BP, De Bie S, De Pauw K, Van Roy N, Speleman F, Van Camp G, De Paepe A
Eur J Hum Genet 1996;4(1):34-8. doi: 10.1159/000472167. PMID: 8800926

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