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BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I

MedGen UID:
443984
•Concept ID:
C2931135
•
Disease or Syndrome
Synonyms: Blepharophimosis syndrome type 1; Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1; Blepharophimosis, ptosis, epicanthus inversus type 1; Blepharophimosis, ptosis, epicanthus inversus with ovarian failure; BPES I; BPES type 1; BPES with ovarian failure; BPES with premature ovarian failure

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.
Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F
J Endocrinol Invest 2016 Feb;39(2):227-33. Epub 2015 Jun 23 doi: 10.1007/s40618-015-0334-3. PMID: 26100530

Recent clinical studies

Etiology

Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.
Jordan P, Verebi C, Hervé B, Perol S, Chakhtoura Z, Courtillot C, Bachelot A, Karila D, Renard C, Grouthier V, de la Croix SM, Bernard V, Fouveaut C, de la Perrière AB, Jonard-Catteau S, Touraine P, Plu-Bureau G, Dupont JM, Christin-Maitre S, Bienvenu T
Clin Genet 2024 Jul;106(1):102-108. Epub 2024 Apr 1 doi: 10.1111/cge.14526. PMID: 38558253
Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Wang Y, Wu Q, Cao W, Huang L, Liu W, Li C, Li N
Mol Vis 2022;28:352-358. Epub 2022 Oct 6 PMID: 36338666Free PMC Article
Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations.
Bunyan DJ, Thomas NS
Eur J Med Genet 2019 Jul;62(7):103668. Epub 2019 May 8 doi: 10.1016/j.ejmg.2019.05.007. PMID: 31077882
The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Tyers AG
Orbit 2011 Oct;30(5):199-201. doi: 10.3109/01676830.2010.547266. PMID: 21957947
The human FOXL2 mutation database.
Beysen D, Vandesompele J, Messiaen L, De Paepe A, De Baere E
Hum Mutat 2004 Sep;24(3):189-93. doi: 10.1002/humu.20079. PMID: 15300845

Diagnosis

Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Wang Y, Wu Q, Cao W, Huang L, Liu W, Li C, Li N
Mol Vis 2022;28:352-358. Epub 2022 Oct 6 PMID: 36338666Free PMC Article
The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Tyers AG
Orbit 2011 Oct;30(5):199-201. doi: 10.3109/01676830.2010.547266. PMID: 21957947
Genes governing premature ovarian failure.
Dixit H, Rao L, Padmalatha V, Raseswari T, Kapu AK, Panda B, Murthy K, Tosh D, Nallari P, Deenadayal M, Gupta N, Chakrabarthy B, Singh L
Reprod Biomed Online 2010 Jun;20(6):724-40. Epub 2010 Mar 1 doi: 10.1016/j.rbmo.2010.02.018. PMID: 20382564
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Leon-Mateos A, Ginarte M, Ruiz-Ponte C, Carracedo A, Toribio J
Int J Dermatol 2007 Jan;46(1):61-3. doi: 10.1111/j.1365-4632.2007.03066.x. PMID: 17214723
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Strømme P, Sandboe F
Acta Ophthalmol Scand 1996 Feb;74(1):45-7. doi: 10.1111/j.1600-0420.1996.tb00680.x. PMID: 8689480

Therapy

Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing.
Zhu X, Li J, Ru T, Wang Y, Xu Y, Yang Y, Wu X, Cram DS, Hu Y
Prenat Diagn 2016 Apr;36(4):321-7. Epub 2016 Mar 8 doi: 10.1002/pd.4782. PMID: 26833920
Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report.
Roth LW, Alvero R
J Reprod Med 2014 Jan-Feb;59(1-2):87-9. PMID: 24597293

Prognosis

A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.
Li F, Chai P, Fan J, Wang X, Lu W, Li J, Ge S, Jia R, Zhang H, Fan X
Cell Physiol Biochem 2018;45(1):203-211. Epub 2018 Jan 15 doi: 10.1159/000486358. PMID: 29339661
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.
Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F
J Endocrinol Invest 2016 Feb;39(2):227-33. Epub 2015 Jun 23 doi: 10.1007/s40618-015-0334-3. PMID: 26100530
The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Tyers AG
Orbit 2011 Oct;30(5):199-201. doi: 10.3109/01676830.2010.547266. PMID: 21957947
Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2.
Bell R, Murday VA, Patton MA, Jeffery S
Genet Test 2001 Winter;5(4):335-8. doi: 10.1089/109065701753617499. PMID: 11960581
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

A novel FOXL2 mutation in two infertile patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Hu J, Ke H, Luo W, Yang Y, Liu H, Li G, Qin Y, Ma J, Zhao S
J Assist Reprod Genet 2020 Jan;37(1):223-229. Epub 2019 Dec 10 doi: 10.1007/s10815-019-01651-2. PMID: 31823134Free PMC Article
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.
Li F, Chai P, Fan J, Wang X, Lu W, Li J, Ge S, Jia R, Zhang H, Fan X
Cell Physiol Biochem 2018;45(1):203-211. Epub 2018 Jan 15 doi: 10.1159/000486358. PMID: 29339661
Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.
Chai P, Li F, Fan J, Jia R, Zhang H, Fan X
Int J Biol Sci 2017;13(8):1019-1028. Epub 2017 Jul 18 doi: 10.7150/ijbs.19532. PMID: 28924383Free PMC Article
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.
Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F
J Endocrinol Invest 2016 Feb;39(2):227-33. Epub 2015 Jun 23 doi: 10.1007/s40618-015-0334-3. PMID: 26100530
Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2.
Bell R, Murday VA, Patton MA, Jeffery S
Genet Test 2001 Winter;5(4):335-8. doi: 10.1089/109065701753617499. PMID: 11960581

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