Literature DB >> 7635472

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

P Amati1, J C Chomel, A Nivelon-Chevalier, S Gilgenkrantz, A Kitzis, J Kaplan, D Bonneau.   

Abstract

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant malformation of the eyelids that may severely impair visual function. Chromosomal aberrations involving chromosomes 3q23, 3p25 and 7p34 have been reported in BPES but the disease gene has not been hitherto localized by linkage analysis. We have mapped a gene for BPES to chromosome 3q23 in a large French pedigree (Zmax = 4.62 at Theta = 0 for probe AFM 182yc5 at locus D3S1549). The best estimate for the location of the disease gene is at locus D3S1549, between the loci D3S1292 and D3S1555 (maximum lod score of 5.10).

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Year:  1995        PMID： 7635472     DOI： 10.1007/bf00207381

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  25 in total

1.  A second-generation linkage map of the human genome.

Authors:  J Weissenbach; G Gyapay; C Dib; A Vignal; J Morissette; P Millasseau; G Vaysseix; M Lathrop
Journal:  Nature       Date:  1992-10-29       Impact factor: 49.962

2.  [COMPLICATED FAMILIAL BLEPHAROPHIMOSIS. STUDY OF MEMBERS OF THE BLE FAMILY].

Authors:  R SACREZ; J FRANCFORT; J G JUIF; J DE GROUCHY
Journal:  Ann Pediatr (Paris)       Date:  1963-10-02

3.  The 1993-94 Généthon human genetic linkage map.

Authors:  G Gyapay; J Morissette; A Vignal; C Dib; C Fizames; P Millasseau; S Marc; G Bernardi; M Lathrop; J Weissenbach
Journal:  Nat Genet       Date:  1994-06       Impact factor: 38.330

4.  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

Review 5.  Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3.

Authors:  K Narahara; K Kikkawa; M Murakami; K Hiramoto; H Namba; K Tsuji; Y Yokoyama; H Kimoto
Journal:  Am J Med Genet       Date:  1990-02

6.  Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene?

Authors:  S Ishikiriyama; M Goto
Journal:  Am J Med Genet       Date:  1993-09-15

7.  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

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

Authors:  P L Townes; E K Muechler
Journal:  Arch Ophthalmol       Date:  1979-09

9.  Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].

Authors:  L Boccone; A Meloni; A M Falchi; V Usai; A Cao
Journal:  Am J Med Genet       Date:  1994-07-01

Review 10.  Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype.

Authors:  M Alvarado; M Bocian; A P Walker
Journal:  Am J Med Genet       Date:  1987-08
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  5 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.  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

3.  A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.

Authors:  E C Engle; A E Castro; M E Macy; J H Knoll; A H Beggs
Journal:  Am J Hum Genet       Date:  1997-05       Impact factor: 11.025

4.  Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Authors:  Shanshan Hu; Junjing Guo; Binbin Wang; Jing Wang; Zhou Zhou; Guangkai Zhou; Xuchen Ding; Xu Ma; Yanhua Qi
Journal:  Mol Vis       Date:  2011-02-09       Impact factor: 2.367

5.  Cytogenetic and clinical assessment of a family with treacher collins syndrome.

Authors:  Manoj Kumar; Rakesh Kumar; Mukesh Tanwar; Supriyo Ghose; Jasbir Kaur; Rima Dada
Journal:  Case Rep Med       Date:  2011-06-23
  5 in total

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