Literature DB >> 1415220

The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533.

Y Li1, B Müller, C Fuhrmann, C E van Nouhuys, H Laqua, P Humphries, E Schwinger, A Gal.   

Abstract

Autosomal dominant familial exudative vitreoretinopathy (adFEVR) is a hereditary disorder characterized by the incomplete vascularization of the peripheral retina. The primary biochemical defect in adFEVR is unknown. The adFEVR locus has tentatively been assigned to 11q by linkage studies. We report the results of an extended multipoint linkage analysis of two families with adFEVR by using five markers (INT2, D11S533, D11S527, D11S35, and CD3D) from 11q13-q23. Pairwise linkage data obtained in the two families were rather similar and hence have not provided evidence for genetic heterogeneity. The highest complied two-point lod score (3.67, at a recombination fraction of .07) was obtained for the disease locus versus D11S533. Multipoint analyses showed that the adFEVR locus maps most likely, with a maximum location score of over 20, between D11S533/D11S527 and D11S35, at recombination rates of .147 and .104, respectively. Close linkage without recombination (maximum lod score 11.26) has been found between D11S533 and D11S527.

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Year:  1992        PMID： 1415220      PMCID： PMC1682793     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  10 in total

1.  The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11.

Authors:  Y Li; C Fuhrmann; E Schwinger; A Gal; H Laqua
Journal:  Am J Ophthalmol       Date:  1992-06-15       Impact factor: 5.258

2.  Isolation, localization, and physical mapping of a highly polymorphic locus on human chromosome 11q13.

Authors:  J H Eubanks; L Selleri; R Hart; C Rosette; G A Evans
Journal:  Genomics       Date:  1991-11       Impact factor: 5.736

3.  Dinucleotide repeat polymorphism at the D11S527 locus.

Authors:  D L Browne; J Gault; M B Thompson; X Y Hauge; G A Evans; M Litt
Journal:  Nucleic Acids Res       Date:  1991-09-11       Impact factor: 16.971

4.  Dinucleotide repeat polymorphisms at the D11S419 and CD3D loci.

Authors:  J L Weber; A E Kwitek; P E May
Journal:  Nucleic Acids Res       Date:  1990-07-11       Impact factor: 16.971

5.  A detailed genetic map of the long arm of chromosome 11.

Authors:  C Julier; Y Nakamura; M Lathrop; P O'Connell; M Leppert; M Litt; T Mohandas; J M Lalouel; R White
Journal:  Genomics       Date:  1990-07       Impact factor: 5.736

6.  Familial exudative vitreoretinopathy.

Authors:  V G Criswick; C L Schepens
Journal:  Am J Ophthalmol       Date:  1969-10       Impact factor: 5.258

7.  Dinucleotide repeat polymorphism at the int-2 proto-oncogene locus (INT2).

Authors:  M H Polymeropoulos; H Xiao; D S Rath; C R Merril
Journal:  Nucleic Acids Res       Date:  1990-12-25       Impact factor: 16.971

8.  A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues.

Authors:  R Rizzuto; H Nakase; B Darras; U Francke; G M Fabrizi; T Mengel; F Walsh; B Kadenbach; S DiMauro; E A Schon
Journal:  J Biol Chem       Date:  1989-06-25       Impact factor: 5.157

9.  Familial exudative vitreoretinopathy.

Authors:  H Laqua
Journal:  Albrecht Von Graefes Arch Klin Exp Ophthalmol       Date:  1980

10.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205
  10 in total
  18 in total

1.  Evectins: vesicular proteins that carry a pleckstrin homology domain and localize to post-Golgi membranes.

Authors:  R Krappa; A Nguyen; P Burrola; D Deretic; G Lemke
Journal:  Proc Natl Acad Sci U S A       Date:  1999-04-13       Impact factor: 11.205

2.  Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

Authors:  Xiaodong Jiao; Valerio Ventruto; Michael T Trese; Barkur S Shastry; J Fielding Hejtmancik
Journal:  Am J Hum Genet       Date:  2004-09-02       Impact factor: 11.025

3.  Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.

Authors:  Y Gong; M Vikkula; L Boon; J Liu; P Beighton; R Ramesar; L Peltonen; H Somer; T Hirose; B Dallapiccola; A De Paepe; W Swoboda; B Zabel; A Superti-Furga; B Steinmann; H G Brunner; A Jans; R G Boles; W Adkins; M J van den Boogaard; B R Olsen; M L Warman
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

4.  [Mutations of the frizzled-4 gene. Their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy].

Authors:  M Müller; C Kusserow; U Orth; U Klär-Dissars; H Laqua; A Gal
Journal:  Ophthalmologe       Date:  2008-03       Impact factor: 1.059

5.  Retinopathy of prematurity in infants of birth weight > 2000 g after haemorrhagic shock at birth.

Authors:  C Jandeck; U Kellner; H Kössel; M Bartsch; H T Versmold; M H Foerster
Journal:  Br J Ophthalmol       Date:  1996-08       Impact factor: 4.638

6.  Molecular genetics as a 'probe' in ophthalmology.

Authors:  N Haites
Journal:  Br J Ophthalmol       Date:  1993-03       Impact factor: 4.638

7.  Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11q13, and exclusion of mu-calpain as the multiple endocrine neoplasia type 1 gene.

Authors:  J T Pang; S E Lloyd; C Wooding; B Farren; B Pottinger; B Harding; S E Leigh; M A Pook; F J Benham; G T Gillett; R T Taggart; R V Thakker
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

8.  Mapping eight new polymorphisms in 11q13 in the vicinity of multiple endocrine neoplasia type 1: identification of a new distal recombinant.

Authors:  C M Smith; S A Wells; D S Gerhard
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

9.  Fibulin-4 regulates expression of the tropoelastin gene and consequent elastic-fibre formation by human fibroblasts.

Authors:  Qiuyun Chen; Teng Zhang; Joseph F Roshetsky; Zhufeng Ouyang; Jeroen Essers; Chun Fan; Qing Wang; Aleksander Hinek; Edward F Plow; Paul E Dicorleto
Journal:  Biochem J       Date:  2009-09-14       Impact factor: 3.857

10.  Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.

Authors:  B E Nichols; R Bascom; M Litt; R McInnes; V C Sheffield; E M Stone
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025
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