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Blepharophimosis-ptosis-epicanthus inversus syndrome type 2

MedGen UID:
1842581
•Concept ID:
C5680363
•
Disease or Syndrome
Synonyms: blepharophimosis-ptosis-epicanthus inversus syndrome type 2; Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure; blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure; BPES type 2
 
Monarch Initiative: MONDO:0035525
Orphanet: ORPHA572361

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBlepharophimosis-ptosis-epicanthus inversus syndrome type 2

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

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
Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.
Hargrave M, James K, Nield K, Toomes C, Georgas K, Sullivan T, Verzijl HT, Oley CA, Little M, De Jonghe P, Kwon JM, Kremer H, Dixon MJ, Timmerman V, Yamada T, Koopman P
Hum Genet 2000 Apr;106(4):432-9. doi: 10.1007/s004390000266. PMID: 10830911
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

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
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
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).
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

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 insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I.
Martinez-Aguayo A, Poggi H, Cattani A, Molina M, Romeo E, Lagos M
J Pediatr Endocrinol Metab 2014 Jan;27(1-2):181-4. doi: 10.1515/jpem-2013-0219. PMID: 24030029
The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Tyers AG
Orbit 2011 Oct;30(5):199-201. doi: 10.3109/01676830.2010.547266. PMID: 21957947
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
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

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
Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Fan JY, Han B, Qiao J, Liu BL, Ji YR, Ge SF, Song HD, Fan XQ
Mutagenesis 2011 Mar;26(2):283-9. Epub 2010 Nov 10 doi: 10.1093/mutage/geq086. PMID: 21068205
Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23).
Tzschach A, Kelbova C, Weidensee S, Peters H, Ropers HH, Ullmann R, Erdogan F, Jurkatis J, Menzel C, Kalscheuer V, Demuth S
Ophthalmic Genet 2008 Mar;29(1):37-40. doi: 10.1080/13816810701867615. PMID: 18363172
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

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