Literature DB >> 2746615

Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome.

A Smith1, I S Fraser, R P Shearman, P Russell.   

Abstract

We describe four females from three families with blepharophimosis, epicanthus inversus, and ptosis who were found to have premature ovarian failure. In two families the inheritance was autosomal dominant and in one it was a new mutation. Two females had, in addition, dysmorphic facial features which have been described in other cases. We suggest that the aetiology of the blepharophimosis ovarian failure syndrome is a contiguous gene syndrome.

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Year:  1989        PMID： 2746615      PMCID： PMC1015646          DOI： 10.1136/jmg.26.7.434

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  20 in total

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Journal:  Science       Date:  1976-03-26       Impact factor: 47.728

Review 3.  Contiguous gene syndromes: a component of recognizable syndromes.

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Journal:  J Pediatr       Date:  1986-08       Impact factor: 4.406

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Journal:  Hum Genet       Date:  1986-04       Impact factor: 4.132

5.  Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus--a syndrome with no name.

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Journal:  Am J Ophthalmol       Date:  1971-09       Impact factor: 5.258

6.  Blepharophimosis and its association with female infertility.

Authors:  C A Jones; J R Collin
Journal:  Br J Ophthalmol       Date:  1984-08       Impact factor: 4.638

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Authors:  J Zlotogora; M Sagi; T Cohen
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

8.  Resistance of the male gonad to a high galactose diet.

Authors:  Y T Chen; D R Mattison; B B Bercu; J D Schulman
Journal:  Pediatr Res       Date:  1984-04       Impact factor: 3.756

9.  Blepharophimosis, ptosis, epicanthus inversus, and primary amenorrhea. A dominant trait.

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Journal:  Arch Ophthalmol       Date:  1979-09

10.  Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth.

Authors:  S Ohdo; H Madokoro; T Sonoda; K Hayakawa
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318
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  10 in total

Review 1.  A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

Authors:  T Cai; D A Tagle; X Xia; P Yu; X X He; L Y Li; J H Xia
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Further evidence for the location of the BPES gene at 3q2.

Authors:  C E de Die-Smulders; J J Engelen; J M Donk; J P Fryns
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

3.  A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23.

Authors:  P Amati; P Gasparini; J Zlotogora; L Zelante; J C Chomel; A Kitzis; J Kaplan; D Bonneau
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

4.  The genetics of XX gonadal dysgenesis.

Authors:  K Aittomäki
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

5.  Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24.

Authors:  H S Harrar; S Jeffery; M A Patton
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

6.  Another example favouring the location of BPES at 3q2.

Authors:  J C de Almeida; J C Llerena Júnior; J B Gonçalves Neto; M Jung; R R Martins
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

7.  Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.

Authors:  M Warburg; M Bugge; K Brøndum-Nielsen
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

8.  Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).

Authors:  J Wolstenholme; J Brown; K G Masters; C Wright; C J English
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

9.  A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.

Authors:  P Amati; J C Chomel; A Nivelon-Chevalier; S Gilgenkrantz; A Kitzis; J Kaplan; D Bonneau
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132

10.  Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report.

Authors:  Barbara Grzechocińska; Damian Warzecha; Maria Wypchło; Rafal Ploski; Mirosław Wielgoś
Journal:  BMC Med Genet       Date:  2019-07-31       Impact factor: 2.103
  10 in total

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