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BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II(BPES II)

MedGen UID:
419345
•Concept ID:
C2931136
•
Disease or Syndrome
Synonyms: Blepharophimosis syndrome type 2; Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2; Blepharophimosis, ptosis, and epicanthus inversus type 2; Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure; BPES II; BPES type 2; BPES without ovarian failure; BPES without 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
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

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
Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients.
Kaur I, Hussain A, Naik MN, Murthy R, Honavar SG
Br J Ophthalmol 2011 Jun;95(6):881-6. Epub 2011 Feb 16 doi: 10.1136/bjo.2009.177972. PMID: 21325395
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

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
Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.
Lin ZB, Chen ZJ, Yang H, Ding XR, Li J, Pan AP, Sun HS, Yu AY, Chen SH
BMC Ophthalmol 2023 Nov 7;23(1):446. doi: 10.1186/s12886-023-03189-5. PMID: 37932670Free PMC Article
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
Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome.
Yang L, Li T, Xing Y
Mol Med Rep 2017 Oct;16(4):5529-5532. Epub 2017 Aug 10 doi: 10.3892/mmr.2017.7226. PMID: 28849110
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl.
Zhou L, Wang T, Wang J
Ophthalmic Plast Reconstr Surg 2017 May/Jun;33(3S Suppl 1):S82-S84. doi: 10.1097/IOP.0000000000000708. PMID: 27115209

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
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
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

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 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

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