Linkage and Candidate Gene Analysis of X-Linked Familial Exudative Vitreoretinopathy

Barkur S. Shastry, James F. Hejtmancik, David Plager, Michael K. Hartzer, Michael T. Trese

Research output: Contribution to journalArticle

47 Citations (Scopus)

Abstract

Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder characterized by avascularity of the peripheral retina, retinal exudates, tractional detachment, and retinal folds. The disorder is most commonly transmitted as an autosomal dominant trait, but X-linked transmission also occurs. To initiate the process of identifying the gene responsible for the X-linked disorder, linkage analysis has been performed with three previously unreported three- or four-generation families. Two-point analysis showed linkage to MAOA (Zmax = 2.1, θmax = 0) and DXS228 (Zmax = 0.5, θmax = 0.11), and this was further confirmed by multipoint analysis with these same markers (Zmax = 2.81 at MAOA), which both lie near the gene causing Norrie disease. Molecular genetic analysis further reveals a missense mutation (R121W) in the third exon of the Norrie's disease gene that perfectly cosegregates with the disease through three generations in one family. This mutation was not detected in the unaffected family members and six normal unrelated controls, suggesting that it is likely to be the pathogenic mutation. Additionally, a polymorphic missense mutation (H127R) was detected in a severely affected patient.

Original languageEnglish (US)
Pages (from-to)341-344
Number of pages4
JournalGenomics
Volume27
Issue number2
DOIs
StatePublished - May 20 1995

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Genetic Association Studies
X-Linked Genes
Missense Mutation
Mutation
Retinal Detachment
Exudates and Transudates
Genes
Retina
Molecular Biology
Exons
Familial Exudative Vitreoretinopathy
Norrie disease

ASJC Scopus subject areas

  • Genetics

Cite this

Linkage and Candidate Gene Analysis of X-Linked Familial Exudative Vitreoretinopathy. / Shastry, Barkur S.; Hejtmancik, James F.; Plager, David; Hartzer, Michael K.; Trese, Michael T.

In: Genomics, Vol. 27, No. 2, 20.05.1995, p. 341-344.

Research output: Contribution to journalArticle

Shastry, BS, Hejtmancik, JF, Plager, D, Hartzer, MK & Trese, MT 1995, 'Linkage and Candidate Gene Analysis of X-Linked Familial Exudative Vitreoretinopathy', Genomics, vol. 27, no. 2, pp. 341-344. https://doi.org/10.1006/geno.1995.1052
Shastry, Barkur S. ; Hejtmancik, James F. ; Plager, David ; Hartzer, Michael K. ; Trese, Michael T. / Linkage and Candidate Gene Analysis of X-Linked Familial Exudative Vitreoretinopathy. In: Genomics. 1995 ; Vol. 27, No. 2. pp. 341-344.
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