Literature DB >> 7987708

[Linkage between juvenile glaucoma and chromosome 1q in 2 French families].

A Meyer1, F Valtot, A Béchetoille, J F Rouland, J C Dascotte, C Férec, J F Bach, A Chaventré, H J Garchon.   

Abstract

Primary open-angle glaucoma is a major cause of irreversible blindness in Western countries for which there is presently no curative treatment. Linkage of hereditary juvenile glaucoma with chromosome 1q21-q23 was recently described in 2 American families. Here we have studied two large French pedigrees with a similar form of familial autosomal dominant juvenile-onset glaucoma. Linkage of glaucoma with chromosome 1 was confirmed in these 2 families. Maximal lod-score of 7.60 was reached at the D1S212 marker for a recombination fraction of 4.4%. The typing of this marker should facilitate the screening of glaucoma families and the identification of individuals at risk for the disease. It will also provide a reference to evaluate the genetic heterogeneity of glaucoma.

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Year:  1994        PMID: 7987708

Source DB:  PubMed          Journal:  C R Acad Sci III        ISSN: 0764-4469


  7 in total

Review 1.  The genetics of primary open angle glaucoma.

Authors:  A Booth; A Churchill; R Anwar; M Menage; A Markham
Journal:  Br J Ophthalmol       Date:  1997-05       Impact factor: 4.638

Review 2.  Molecular genetics of the glaucomas: mapping of the first five "GLC" loci.

Authors:  V Raymond
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

3.  Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.

Authors:  M K Wirtz; J R Samples; P L Kramer; K Rust; J R Topinka; J Yount; R D Koler; T S Acott
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

Review 4.  Genetics of primary open angle glaucoma.

Authors:  Mitsuko Takamoto; Makoto Araie
Journal:  Jpn J Ophthalmol       Date:  2013-11-21       Impact factor: 2.447

5.  Juvenile glaucoma linked to GLCIA in a Panamanian family.

Authors:  P R Lichter; J E Richards; M Boehnke; M Othman; B D Cameron; H M Stringham; C A Downs; S B Lewis; B F Boyd
Journal:  Trans Am Ophthalmol Soc       Date:  1996

6.  A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.

Authors:  A M Kennan; F C Mansergh; J H Fingert; T Clark; C Ayuso; P F Kenna; P Humphries; G J Farrar
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

7.  CRISPR-Cas9-based treatment of myocilin-associated glaucoma.

Authors:  Ankur Jain; Gulab Zode; Ramesh B Kasetti; Fei A Ran; Winston Yan; Tasneem P Sharma; Kevin Bugge; Charles C Searby; John H Fingert; Feng Zhang; Abbot F Clark; Val C Sheffield
Journal:  Proc Natl Acad Sci U S A       Date:  2017-10-02       Impact factor: 11.205

  7 in total

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