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Blepharophimosis-ptosis-epicanthus inversus syndrome type 1

MedGen UID:
1843155
•Concept ID:
C5680365
•
Disease or Syndrome
Synonyms: blepharophimosis-ptosis-epicanthus inversus syndrome type 1; Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure; blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure; BPES type 1
 
Monarch Initiative: MONDO:0035524
Orphanet: ORPHA572354

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBlepharophimosis-ptosis-epicanthus inversus syndrome type 1

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

Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Hu S, Guo J, Wang B, Wang J, Zhou Z, Zhou G, Ding X, Ma X, Qi Y
Mol Vis 2011 Feb 9;17:436-42. PMID: 21321671Free PMC Article
Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).
Praphanphoj V, Goodman BK, Thomas GH, Niel KM, Toomes C, Dixon MJ, Geraghty MT
Genomics 2000 Apr 1;65(1):67-9. doi: 10.1006/geno.2000.6157. PMID: 10777667

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
Genetic diseases affecting the eyelids: what should a clinician know?
Allen RC
Curr Opin Ophthalmol 2013 Sep;24(5):463-77. doi: 10.1097/ICU.0b013e3283638219. PMID: 23846188
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

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
A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid.
Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N
Ophthalmic Genet 2002 Mar;23(1):43-7. doi: 10.1076/opge.23.1.43.2202. PMID: 11910558
Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).
Praphanphoj V, Goodman BK, Thomas GH, Niel KM, Toomes C, Dixon MJ, Geraghty MT
Genomics 2000 Apr 1;65(1):67-9. doi: 10.1006/geno.2000.6157. PMID: 10777667

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
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
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female.
Alao MJ, Lalèyè A, Lalya F, Hans Ch, Abramovicz M, Morice-Picard F, Arveiler B, Lacombe D, Rooryck C
Eur J Med Genet 2012 Nov;55(11):630-4. Epub 2012 Aug 3 doi: 10.1016/j.ejmg.2012.07.005. PMID: 22906557

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